Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation
Identifieur interne : 008742 ( Ncbi/Merge ); précédent : 008741; suivant : 008743Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation
Auteurs : Leilei Zhang [République populaire de Chine] ; Jie He [République populaire de Chine] ; Bing Han [République populaire de Chine] ; Linna Lu [République populaire de Chine] ; Jiayan Fan [République populaire de Chine] ; He Zhang [République populaire de Chine] ; Shengfang Ge [République populaire de Chine] ; Yixiong Zhou [République populaire de Chine] ; Renbing Jia [République populaire de Chine] ; Xianqun Fan [République populaire de Chine]Source :
- International Journal of Biological Sciences [ 1449-2288 ] ; 2016.
Abstract
Distichiasis presents as double rows of eyelashes arising from aberrant differentiation of the meibomian glands of the eyelids, and it may be sporadic or hereditary.
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DOI: 10.7150/ijbs.13774
PubMed: 27570485
PubMed Central: 4997055
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School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Han, Bing" sort="Han, Bing" uniqKey="Han B" first="Bing" last="Han">Bing Han</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:aff><country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country><wicri:regionArea>Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Lu, Linna" sort="Lu, Linna" uniqKey="Lu L" first="Linna" last="Lu">Linna Lu</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Jiayan" sort="Fan, Jiayan" uniqKey="Fan J" first="Jiayan" last="Fan">Jiayan Fan</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, 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People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Xianqun" sort="Fan, Xianqun" uniqKey="Fan X" first="Xianqun" last="Fan">Xianqun Fan</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno 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Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="He, Jie" sort="He, Jie" uniqKey="He J" first="Jie" last="He">Jie He</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Han, Bing" sort="Han, Bing" uniqKey="Han B" first="Bing" last="Han">Bing Han</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:aff><country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country><wicri:regionArea>Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Lu, Linna" sort="Lu, Linna" uniqKey="Lu L" first="Linna" last="Lu">Linna Lu</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Jiayan" sort="Fan, Jiayan" uniqKey="Fan J" first="Jiayan" last="Fan">Jiayan Fan</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, He" sort="Zhang, He" uniqKey="Zhang H" first="He" last="Zhang">He Zhang</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Ge, Shengfang" sort="Ge, Shengfang" uniqKey="Ge S" first="Shengfang" last="Ge">Shengfang Ge</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Zhou, Yixiong" sort="Zhou, Yixiong" uniqKey="Zhou Y" first="Yixiong" last="Zhou">Yixiong Zhou</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Jia, Renbing" sort="Jia, Renbing" uniqKey="Jia R" first="Renbing" last="Jia">Renbing Jia</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Xianqun" sort="Fan, Xianqun" uniqKey="Fan X" first="Xianqun" last="Fan">Xianqun Fan</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author></analytic><series><title level="j">International Journal of Biological Sciences</title><idno type="eISSN">1449-2288</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Distichiasis presents as double rows of eyelashes arising from aberrant differentiation of the meibomian glands of the eyelids, and it may be sporadic or hereditary. <italic>FOXC2</italic> gene mutations in hereditary distichiasis are rarely reported. Here, we examined two generations of a Chinese family with hereditary distichiasis but without lymphedema or other features of LD syndrome. The <italic>FOXC2</italic> gene was amplified and sequenced in all family members. Subcellular localization and luciferase assays were performed to assess the activity of the mutant FOXC2 protein. Clinical examinations showed distichiasis, lower eyelid ectropion, congenital ptosis and photophobia in all affected individuals. Sequence analysis revealed a novel frameshift mutation, c.964_965insG, in the coding region of the<italic> FOXC2</italic> gene. This mutation caused protein truncation due to the presence of a premature stop codon. A fluorescence assay showed that this mutation did not change the nuclear localization of the protein. However, it impaired DNA-binding activity and decreased transcriptional activation. This is the first report of a <italic>FOXC2 </italic>mutation in hereditary distichiasis in the Chinese population. The findings of our study expand the <italic>FOXC2</italic> mutation spectrum and contribute to the understanding of the genotype-phenotype correlation of this disease.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Vreeburg, M" uniqKey="Vreeburg M">M Vreeburg</name></author><author><name sortKey="Heitink, Mv" uniqKey="Heitink M">MV Heitink</name></author><author><name sortKey="Damstra, Rj" uniqKey="Damstra R">RJ Damstra</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mellor, Rh" uniqKey="Mellor R">RH Mellor</name></author><author><name sortKey="Brice, G" uniqKey="Brice G">G Brice</name></author><author><name sortKey="Stanton, Aw" uniqKey="Stanton A">AW Stanton</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mangion, J" uniqKey="Mangion J">J Mangion</name></author><author><name sortKey="Rahman, N" uniqKey="Rahman N">N Rahman</name></author><author><name 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Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="He, Jie" sort="He, Jie" uniqKey="He J" first="Jie" last="He">Jie He</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Han, Bing" sort="Han, Bing" uniqKey="Han B" first="Bing" last="Han">Bing Han</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:aff><country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country><wicri:regionArea>Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Lu, Linna" sort="Lu, Linna" uniqKey="Lu L" first="Linna" last="Lu">Linna Lu</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Jiayan" sort="Fan, Jiayan" uniqKey="Fan J" first="Jiayan" last="Fan">Jiayan Fan</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, He" sort="Zhang, He" uniqKey="Zhang H" first="He" last="Zhang">He Zhang</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Ge, Shengfang" sort="Ge, Shengfang" uniqKey="Ge S" first="Shengfang" last="Ge">Shengfang Ge</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Zhou, Yixiong" sort="Zhou, Yixiong" uniqKey="Zhou Y" first="Yixiong" last="Zhou">Yixiong Zhou</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Jia, Renbing" sort="Jia, Renbing" uniqKey="Jia R" first="Renbing" last="Jia">Renbing Jia</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Xianqun" sort="Fan, Xianqun" uniqKey="Fan X" first="Xianqun" last="Fan">Xianqun Fan</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27570485</idno><idno type="pmc">4997055</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4997055</idno><idno type="RBID">PMC:4997055</idno><idno type="doi">10.7150/ijbs.13774</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">003F39</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003F39</idno><idno type="wicri:Area/Pmc/Curation">003F38</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003F38</idno><idno type="wicri:Area/Pmc/Checkpoint">000748</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000748</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Novel <italic>FOXC2</italic> Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation</title><author><name sortKey="Zhang, Leilei" sort="Zhang, Leilei" uniqKey="Zhang L" first="Leilei" last="Zhang">Leilei Zhang</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="He, Jie" sort="He, Jie" uniqKey="He J" first="Jie" last="He">Jie He</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Han, Bing" sort="Han, Bing" uniqKey="Han B" first="Bing" last="Han">Bing Han</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:aff><country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country><wicri:regionArea>Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Lu, Linna" sort="Lu, Linna" uniqKey="Lu L" first="Linna" last="Lu">Linna Lu</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Jiayan" sort="Fan, Jiayan" uniqKey="Fan J" first="Jiayan" last="Fan">Jiayan Fan</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, He" sort="Zhang, He" uniqKey="Zhang H" first="He" last="Zhang">He Zhang</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Ge, Shengfang" sort="Ge, Shengfang" uniqKey="Ge S" first="Shengfang" last="Ge">Shengfang Ge</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Zhou, Yixiong" sort="Zhou, Yixiong" uniqKey="Zhou Y" first="Yixiong" last="Zhou">Yixiong Zhou</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Jia, Renbing" sort="Jia, Renbing" uniqKey="Jia R" first="Renbing" last="Jia">Renbing Jia</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Xianqun" sort="Fan, Xianqun" uniqKey="Fan X" first="Xianqun" last="Fan">Xianqun Fan</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author></analytic><series><title level="j">International Journal of Biological Sciences</title><idno type="eISSN">1449-2288</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Distichiasis presents as double rows of eyelashes arising from aberrant differentiation of the meibomian glands of the eyelids, and it may be sporadic or hereditary. <italic>FOXC2</italic> gene mutations in hereditary distichiasis are rarely reported. Here, we examined two generations of a Chinese family with hereditary distichiasis but without lymphedema or other features of LD syndrome. The <italic>FOXC2</italic> gene was amplified and sequenced in all family members. Subcellular localization and luciferase assays were performed to assess the activity of the mutant FOXC2 protein. Clinical examinations showed distichiasis, lower eyelid ectropion, congenital ptosis and photophobia in all affected individuals. Sequence analysis revealed a novel frameshift mutation, c.964_965insG, in the coding region of the<italic> FOXC2</italic> gene. This mutation caused protein truncation due to the presence of a premature stop codon. A fluorescence assay showed that this mutation did not change the nuclear localization of the protein. However, it impaired DNA-binding activity and decreased transcriptional activation. This is the first report of a <italic>FOXC2 </italic>mutation in hereditary distichiasis in the Chinese population. The findings of our study expand the <italic>FOXC2</italic> mutation spectrum and contribute to the understanding of the genotype-phenotype correlation of this disease.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Vreeburg, M" uniqKey="Vreeburg M">M Vreeburg</name></author><author><name sortKey="Heitink, Mv" uniqKey="Heitink M">MV Heitink</name></author><author><name sortKey="Damstra, Rj" uniqKey="Damstra R">RJ Damstra</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mellor, Rh" uniqKey="Mellor R">RH Mellor</name></author><author><name sortKey="Brice, G" uniqKey="Brice G">G Brice</name></author><author><name sortKey="Stanton, Aw" uniqKey="Stanton A">AW Stanton</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mangion, J" uniqKey="Mangion J">J Mangion</name></author><author><name sortKey="Rahman, N" uniqKey="Rahman N">N Rahman</name></author><author><name 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University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="He, Jie" sort="He, Jie" uniqKey="He J" first="Jie" last="He">Jie He</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Han, Bing" sort="Han, Bing" uniqKey="Han B" first="Bing" last="Han">Bing Han</name><affiliation wicri:level="1"><nlm:affiliation>Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Lu, Linna" sort="Lu, Linna" uniqKey="Lu L" first="Linna" last="Lu">Linna Lu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Jiayan" sort="Fan, Jiayan" uniqKey="Fan J" first="Jiayan" last="Fan">Jiayan Fan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, He" sort="Zhang, He" uniqKey="Zhang H" first="He" last="Zhang">He Zhang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Ge, Shengfang" sort="Ge, Shengfang" uniqKey="Ge S" first="Shengfang" last="Ge">Shengfang Ge</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Zhou, Yixiong" sort="Zhou, Yixiong" uniqKey="Zhou Y" first="Yixiong" last="Zhou">Yixiong Zhou</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Jia, Renbing" sort="Jia, Renbing" uniqKey="Jia R" first="Renbing" last="Jia">Renbing Jia</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Xianqun" sort="Fan, Xianqun" uniqKey="Fan X" first="Xianqun" last="Fan">Xianqun Fan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27570485</idno><idno type="pmid">27570485</idno><idno type="doi">10.7150/ijbs.13774</idno><idno type="wicri:Area/PubMed/Corpus">000649</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000649</idno><idno type="wicri:Area/PubMed/Curation">000649</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000649</idno><idno type="wicri:Area/PubMed/Checkpoint">000649</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000649</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation.</title><author><name sortKey="Zhang, Leilei" sort="Zhang, Leilei" uniqKey="Zhang L" first="Leilei" last="Zhang">Leilei Zhang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="He, Jie" sort="He, Jie" uniqKey="He J" first="Jie" last="He">Jie He</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Han, Bing" sort="Han, Bing" uniqKey="Han B" first="Bing" last="Han">Bing Han</name><affiliation wicri:level="1"><nlm:affiliation>Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of endocrinology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Lu, Linna" sort="Lu, Linna" uniqKey="Lu L" first="Linna" last="Lu">Linna Lu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Jiayan" sort="Fan, Jiayan" uniqKey="Fan J" first="Jiayan" last="Fan">Jiayan Fan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, He" sort="Zhang, He" uniqKey="Zhang H" first="He" last="Zhang">He Zhang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Ge, Shengfang" sort="Ge, Shengfang" uniqKey="Ge S" first="Shengfang" last="Ge">Shengfang Ge</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Zhou, Yixiong" sort="Zhou, Yixiong" uniqKey="Zhou Y" first="Yixiong" last="Zhou">Yixiong Zhou</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Jia, Renbing" sort="Jia, Renbing" uniqKey="Jia R" first="Renbing" last="Jia">Renbing Jia</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Fan, Xianqun" sort="Fan, Xianqun" uniqKey="Fan X" first="Xianqun" last="Fan">Xianqun Fan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author></analytic><series><title level="j">International journal of biological sciences</title><idno type="eISSN">1449-2288</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Distichiasis presents as double rows of eyelashes arising from aberrant differentiation of the meibomian glands of the eyelids, and it may be sporadic or hereditary. FOXC2 gene mutations in hereditary distichiasis are rarely reported. Here, we examined two generations of a Chinese family with hereditary distichiasis but without lymphedema or other features of LD syndrome. The FOXC2 gene was amplified and sequenced in all family members. Subcellular localization and luciferase assays were performed to assess the activity of the mutant FOXC2 protein. Clinical examinations showed distichiasis, lower eyelid ectropion, congenital ptosis and photophobia in all affected individuals. Sequence analysis revealed a novel frameshift mutation, c.964_965insG, in the coding region of the FOXC2 gene. This mutation caused protein truncation due to the presence of a premature stop codon. A fluorescence assay showed that this mutation did not change the nuclear localization of the protein. However, it impaired DNA-binding activity and decreased transcriptional activation. This is the first report of a FOXC2 mutation in hereditary distichiasis in the Chinese population. The findings of our study expand the FOXC2 mutation spectrum and contribute to the understanding of the genotype-phenotype correlation of this disease.</div></front></TEI></pubmed></double></record>Pour manipuler ce document sous Unix (Dilib)
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