Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2

Naeem, Muhammad; Jelani, Musharraf; Lee, K.; Ali, Ghazanfar; Chishti, Muhammad Salman; Wali, Abdul; Gul, Asma; John, Peter; Hassan, Muhammad Jawad; Leal, Suzanne M.; Ahmad, Farooq

doi:10.1111/j.1365-2133.2006.07509.x

Cited by 23 publications

(18 citation statements)

References 16 publications

(29 reference statements)

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“…In addition, affected individuals with PHNED typically show spoon‐shaped nails. The autosomal‐recessive form of PHNED (AR‐PHNED) has been mapped to chromosome 17p12‐q21.2 and 12p11.1‐q21.1, which contained the type I and type II keratin gene clusters, respectively [Naeem et al, ,b]. Subsequently, mutations in the type II hair keratin gene KRT85 (MIM #602767) have been identified in several Pakistani families with AR‐PHNED [Naeem et al, ;].…”

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confidence: 99%

A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

Farooq

Kurban²,

Fujimoto³

et al. 2013

Human Mutation

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Pure hair and nail ectodermal dysplasia (PHNED) is a rare genetic disorder characterized by hypotrichosis or complete alopecia, as well as nail dystrophy. Mutations in the type II hair keratin gene KRT85 and the HOXC13 gene on chromosome 12q have recently been identified in families with autosomal-recessive PHNED. In the present study, we have analyzed a consanguineous Syrian family with an affected girl having complete alopecia and nail dystrophy since birth. The family clearly showed linkage to chromosome 12q13.13-12q14.3, which excluded the KRT85 gene. Sequencing of another candidate gene HOXC13 within the linkage interval identified a homozygous frameshift mutation (c.355delC; p.Leu119Trpfs*20). Expression studies in cultured cells revealed that the mutant HOXC13 protein mislocalized within the cytoplasm, and failed to upregulate the promoter activities of its target genes. Our results strongly suggest crucial roles of the HOXC13 gene in the development of hair and nails in humans.

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confidence: 99%

A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

Farooq

Kurban²,

Fujimoto³

et al. 2013

Human Mutation

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“…PHNED has significant genetic heterogeneity. The autosomal recessive form of this disorder (PHNED‐AR) has been mapped to several loci: 17p12‐q21.2 , 10q24.32‐q25.1 , 12p11.1‐q21.1 , and 12p11.1‐q14.3 . In 2006, Naeem et al were the first to link a specific gene to PHNED‐AR when they found a homozygous missense mutation in KRT85 (Online Mendelian Inheritance in Man [OMIM] 602767) in affected members of a consanguineous Pakistani family.…”

Section: Summary Of Mutations In Hoxc13 In Families With Pure Hair Anmentioning

confidence: 99%

A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia

Orseth

Smith

et al. 2017

Pediatric Dermatology

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Pure hair and nail ectodermal dysplasia (PHNED) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. We describe a homozygous novel missense mutation in the HOXC13 gene that resulted in autosomal recessive PHNED in a Hispanic child. The mutation c.812A>G (p.Gln271Arg) is located within the DNA-binding domain of the HOXC13 gene, cosegregates within the family, and is predicted to be maximally damaging. This is the first reported case of a missense HOXC13 mutation resulting in PHNED and the first reported case of PHNED identified in a North American family. Our findings illustrate the critical role of HOXC13 in human hair and nail development.

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“…The disease can show either an autosomal dominant or recessive inheritance trait. The autosomal recessive form has been mapped to chromosome 17p12-q21.2 [17] and 12p11.1-q21.1 [18] which contain the type I and type II keratin gene clusters, respectively. Subsequently, homozygous mutations in KRT85 gene have been identified in families with autosomal recessive PHNED [18,19].…”

Section: Current Genetics In Dermatologymentioning

confidence: 99%

Current Genetics in Hair Diseases

Shimomura¹

2013

Current Genetics in Dermatology

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Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2

Cited by 23 publications

References 16 publications

A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia

Current Genetics in Hair Diseases

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