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Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known t... Full description

Journal Title: American journal of human genetics 2012, Vol.91 (5), p.906-911
Main Author: ZHIMIAOLIN
Other Authors: QUANCHEN , RUO XIAO , XUANZHU LIU , LANLAN DAI , XUEJUN ZHU , RUOYU LI , BETZ, Regina C , XUE ZHANG , YONG YANG , LEISHI , MINGYANG LEE , GIEHL, Kathrin A , ZHANLI TANG , HUIJUNWANG , JIEZHANG , JINGHUA YIN , LINGSHEN WU
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Cambridge, MA: Cell Press
ID: ISSN: 0002-9297
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title: Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
format: Article
creator:
  • ZHIMIAOLIN
  • QUANCHEN
  • RUO XIAO
  • XUANZHU LIU
  • LANLAN DAI
  • XUEJUN ZHU
  • RUOYU LI
  • BETZ, Regina C
  • XUE ZHANG
  • YONG YANG
  • LEISHI
  • MINGYANG LEE
  • GIEHL, Kathrin A
  • ZHANLI TANG
  • HUIJUNWANG
  • JIEZHANG
  • JINGHUA YIN
  • LINGSHEN WU
subjects:
  • Animals
  • Asian Continental Ancestry Group - genetics
  • Biological and medical sciences
  • Causes of
  • China
  • Chinese
  • Chromosomes
  • Consanguinity
  • Dermatology
  • Diseases
  • Ectodermal dysplasia
  • Ectodermal Dysplasia - genetics
  • Ectodermal Dysplasia - pathology
  • Exome
  • Exome sequencing
  • Female
  • Fundamental and applied biological sciences. Psychology
  • Gene expression
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Gene mutations
  • Genes, Recessive
  • Genetic aspects
  • Genetic disorders
  • Genetics
  • Genetics of eukaryotes. Biological and molecular evolution
  • Genetics(clinical)
  • Hair
  • Hair and nails disorders
  • Homeodomain Proteins - genetics
  • Homozygote
  • Humans
  • Hypotrichosis - genetics
  • integumentary system
  • Male
  • Medical genetics
  • Medical sciences
  • Mice
  • Mice, Transgenic
  • Molecular and cellular biology
  • Mutation
  • Nail Diseases - genetics
  • Pedigree
  • Phenotype
  • Proteins
  • Report
  • Skin
  • Skin - pathology
  • Usage
ispartof: American journal of human genetics, 2012, Vol.91 (5), p.906-911
description: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonsense mutation (c.390C>A [p.Tyr130(∗)]) in HOXC13 in all affected individuals. In an additional affected female from a consanguineous Afghan family, we found a 27.6 kb homozygous microdeletion involving the first exon of HOXC13. We examined HOXC13 expression in scalp specimen obtained from the index individual of the Chinese family and detected dramatically reduced mRNA levels in skin tissue and nearly absent protein staining in hair follicles, suggesting a mechanism of nonsense-mediated mRNA decay. We also observed markedly decreased expression of four HOXC13 target genes in the specimen. Taken together, our results demonstrate that loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titleLoss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
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creatorZHIMIAOLIN ; QUANCHEN ; RUO XIAO ; XUANZHU LIU ; LANLAN DAI ; XUEJUN ZHU ; RUOYU LI ; BETZ, Regina C ; XUE ZHANG ; YONG YANG ; LEISHI ; MINGYANG LEE ; GIEHL, Kathrin A ; ZHANLI TANG ; HUIJUNWANG ; JIEZHANG ; JINGHUA YIN ; LINGSHEN WU
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descriptionPure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonsense mutation (c.390C>A [p.Tyr130(∗)]) in HOXC13 in all affected individuals. In an additional affected female from a consanguineous Afghan family, we found a 27.6 kb homozygous microdeletion involving the first exon of HOXC13. We examined HOXC13 expression in scalp specimen obtained from the index individual of the Chinese family and detected dramatically reduced mRNA levels in skin tissue and nearly absent protein staining in hair follicles, suggesting a mechanism of nonsense-mediated mRNA decay. We also observed markedly decreased expression of four HOXC13 target genes in the specimen. Taken together, our results demonstrate that loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development.
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subjectAnimals ; Asian Continental Ancestry Group - genetics ; Biological and medical sciences ; Causes of ; China ; Chinese ; Chromosomes ; Consanguinity ; Dermatology ; Diseases ; Ectodermal dysplasia ; Ectodermal Dysplasia - genetics ; Ectodermal Dysplasia - pathology ; Exome ; Exome sequencing ; Female ; Fundamental and applied biological sciences. Psychology ; Gene expression ; Gene Expression Profiling ; Gene Expression Regulation ; Gene mutations ; Genes, Recessive ; Genetic aspects ; Genetic disorders ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genetics(clinical) ; Hair ; Hair and nails disorders ; Homeodomain Proteins - genetics ; Homozygote ; Humans ; Hypotrichosis - genetics ; integumentary system ; Male ; Medical genetics ; Medical sciences ; Mice ; Mice, Transgenic ; Molecular and cellular biology ; Mutation ; Nail Diseases - genetics ; Pedigree ; Phenotype ; Proteins ; Report ; Skin ; Skin - pathology ; Usage
ispartofAmerican journal of human genetics, 2012, Vol.91 (5), p.906-911
rights
02015 INIST-CNRS
1Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
2Copyright Cell Press Nov 2, 2012
32012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics
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3XUANZHU LIU
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12GIEHL, Kathrin A
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0Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
1American journal of human genetics
addtitleAm J Hum Genet
descriptionPure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonsense mutation (c.390C>A [p.Tyr130(∗)]) in HOXC13 in all affected individuals. In an additional affected female from a consanguineous Afghan family, we found a 27.6 kb homozygous microdeletion involving the first exon of HOXC13. We examined HOXC13 expression in scalp specimen obtained from the index individual of the Chinese family and detected dramatically reduced mRNA levels in skin tissue and nearly absent protein staining in hair follicles, suggesting a mechanism of nonsense-mediated mRNA decay. We also observed markedly decreased expression of four HOXC13 target genes in the specimen. Taken together, our results demonstrate that loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development.
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1Asian Continental Ancestry Group - genetics
2Biological and medical sciences
3Causes of
4China
5Chinese
6Chromosomes
7Consanguinity
8Dermatology
9Diseases
10Ectodermal dysplasia
11Ectodermal Dysplasia - genetics
12Ectodermal Dysplasia - pathology
13Exome
14Exome sequencing
15Female
16Fundamental and applied biological sciences. Psychology
17Gene expression
18Gene Expression Profiling
19Gene Expression Regulation
20Gene mutations
21Genes, Recessive
22Genetic aspects
23Genetic disorders
24Genetics
25Genetics of eukaryotes. Biological and molecular evolution
26Genetics(clinical)
27Hair
28Hair and nails disorders
29Homeodomain Proteins - genetics
30Homozygote
31Humans
32Hypotrichosis - genetics
33integumentary system
34Male
35Medical genetics
36Medical sciences
37Mice
38Mice, Transgenic
39Molecular and cellular biology
40Mutation
41Nail Diseases - genetics
42Pedigree
43Phenotype
44Proteins
45Report
46Skin
47Skin - pathology
48Usage
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authorZHIMIAOLIN ; QUANCHEN ; RUO XIAO ; XUANZHU LIU ; LANLAN DAI ; XUEJUN ZHU ; RUOYU LI ; BETZ, Regina C ; XUE ZHANG ; YONG YANG ; LEISHI ; MINGYANG LEE ; GIEHL, Kathrin A ; ZHANLI TANG ; HUIJUNWANG ; JIEZHANG ; JINGHUA YIN ; LINGSHEN WU
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1Asian Continental Ancestry Group - genetics
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3Causes of
4China
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6Chromosomes
7Consanguinity
8Dermatology
9Diseases
10Ectodermal dysplasia
11Ectodermal Dysplasia - genetics
12Ectodermal Dysplasia - pathology
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16Fundamental and applied biological sciences. Psychology
17Gene expression
18Gene Expression Profiling
19Gene Expression Regulation
20Gene mutations
21Genes, Recessive
22Genetic aspects
23Genetic disorders
24Genetics
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38Mice, Transgenic
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1QUANCHEN
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abstractPure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonsense mutation (c.390C>A [p.Tyr130(∗)]) in HOXC13 in all affected individuals. In an additional affected female from a consanguineous Afghan family, we found a 27.6 kb homozygous microdeletion involving the first exon of HOXC13. We examined HOXC13 expression in scalp specimen obtained from the index individual of the Chinese family and detected dramatically reduced mRNA levels in skin tissue and nearly absent protein staining in hair follicles, suggesting a mechanism of nonsense-mediated mRNA decay. We also observed markedly decreased expression of four HOXC13 target genes in the specimen. Taken together, our results demonstrate that loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development.
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pmid23063621
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