A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.
Identifieur interne : 006810 ( Ncbi/Merge ); précédent : 006809; suivant : 006811A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.
Auteurs : L-L Zhu [République populaire de Chine] ; Y-N Lv ; H-D Chen ; X-H GaoSource :
- Clinical and experimental dermatology [ 1365-2230 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Facteurs de transcription Forkhead, Lymphoedème.
- malformations : Cils.
- Adolescent, Humains, Mutation faux-sens, Mâle, Pedigree.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Forkhead Transcription Factors.
- abnormalities : Eyelashes.
- genetics : Lymphedema.
- Adolescent, Humans, Male, Mutation, Missense, Pedigree.
Abstract
Lymphoedema-distichiasis syndrome (LDS) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC2 gene were reported to be associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC2 gene mutation, C.370C>T, leading to p.Leu124Phe. The novel mutation is not a common polymorphism, but is co-inherited with the disease.
DOI: 10.1111/ced.12389
PubMed: 24984567
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pubmed:24984567Le document en format XML
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<author><name sortKey="Zhu, L L" sort="Zhu, L L" uniqKey="Zhu L" first="L-L" last="Zhu">L-L Zhu</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, No.1 Hospital of China Medical University, China; Department of Dermatology, The People's Hospital of Liaoning Province, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Dermatology, No.1 Hospital of China Medical University, China; Department of Dermatology, The People's Hospital of Liaoning Province</wicri:regionArea>
<wicri:noRegion>The People's Hospital of Liaoning Province</wicri:noRegion>
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<author><name sortKey="Lv, Y N" sort="Lv, Y N" uniqKey="Lv Y" first="Y-N" last="Lv">Y-N Lv</name>
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<author><name sortKey="Chen, H D" sort="Chen, H D" uniqKey="Chen H" first="H-D" last="Chen">H-D Chen</name>
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<author><name sortKey="Gao, X H" sort="Gao, X H" uniqKey="Gao X" first="X-H" last="Gao">X-H Gao</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Eyelashes (abnormalities)</term>
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<term>Humans</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Mutation, Missense</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Cils (malformations)</term>
<term>Facteurs de transcription Forkhead (génétique)</term>
<term>Humains</term>
<term>Lymphoedème (génétique)</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Pedigree</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term>
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<term>Mutation, Missense</term>
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<front><div type="abstract" xml:lang="en">Lymphoedema-distichiasis syndrome (LDS) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC2 gene were reported to be associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC2 gene mutation, C.370C>T, leading to p.Leu124Phe. The novel mutation is not a common polymorphism, but is co-inherited with the disease.</div>
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<CopyrightInformation>© 2014 British Association of Dermatologists.</CopyrightInformation>
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