A Homozygous Frameshift Mutation in the<i>HOXC13</i>Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

January 2013 in “ Human Mutation ”

Muhammad Farooq, Mazen Kurban, Atsushi Fujimoto, Hiroki Fujikawa, Ossama Abbas, Georges Nemer, Jessica Saliba, Rima Sleiman, Mona Tofaili, Abdul‐Ghani Kibbi, Masaaki Ito, Yutaka Shimomura

HOXC13 pure hair and nail ectodermal dysplasia alopecia nail dystrophy chromosome 12q13.13-12q14.3 KRT85 frameshift mutation PHNED

TLDR A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

The study investigated a Syrian family with a girl affected by pure hair and nail ectodermal dysplasia (PHNED), characterized by complete alopecia and nail dystrophy. Genetic analysis showed linkage to chromosome 12q13.13-12q14.3, excluding the KRT85 gene. A homozygous frameshift mutation in the HOXC13 gene (c.355delC; p.Leu119Trpfs*20) was identified. Expression studies indicated that the mutant HOXC13 protein was mislocalized in the cytoplasm and failed to activate its target genes, suggesting that the HOXC13 gene played a crucial role in human hair and nail development.

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A Homozygous Frameshift Mutation in the<i>HOXC13</i>Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

Research cited in this study

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

research The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target During Hair Follicle and Nail Differentiation

research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

research Desmoglein 4 Is Regulated by Transcription Factors Implicated in Hair Shaft Differentiation

research The human keratins: biology and pathology

research Evidence That the Satin Hair Mutant Gene Foxq1 Is Among Multiple and Functionally Diverse Regulatory Targets for Hoxc13 During Hair Follicle Differentiation

research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

research Krtap16, Characterization of a New Hair Keratin-associated Protein (KAP) Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13

research Expression of hair keratins in the adult nail unit: an immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed

research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression

research The Catalog of Human Hair Keratins

research Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia

research The Catalog of Human Hair Keratins

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