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A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.

Identifieur interne : 006810 ( Ncbi/Checkpoint ); précédent : 006809; suivant : 006811

A 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 Gao

Source :

Clinical and experimental dermatology [ 1365-2230 ] ; 2014.

RBID : pubmed:24984567

Descripteurs français

KwdFr :
- Adolescent, Cils (malformations), Facteurs de transcription Forkhead (génétique), Humains, Lymphoedème (génétique), Mutation faux-sens, Mâle, Pedigree.
MESH :
- génétique : Facteurs de transcription Forkhead, Lymphoedème.
- malformations : Cils.
- Adolescent, Humains, Mutation faux-sens, Mâle, Pedigree.

English descriptors

KwdEn :
- Adolescent, Eyelashes (abnormalities), Forkhead Transcription Factors (genetics), Humans, Lymphedema (genetics), Male, Mutation, Missense, Pedigree.
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

Affiliations:

République populaire de Chine

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pubmed:24984567

Le 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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<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>
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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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<series><title level="j">Clinical and experimental dermatology</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
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<term>Forkhead Transcription Factors (genetics)</term>
<term>Humans</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Mutation, Missense</term>
<term>Pedigree</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>
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<term>Pedigree</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</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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<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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<country name="République populaire de Chine"><noRegion><name sortKey="Zhu, L L" sort="Zhu, L L" uniqKey="Zhu L" first="L-L" last="Zhu">L-L Zhu</name>
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A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.

A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki