A Homozygous Frameshift Mutation in the HOXC13 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 case of pure hair and nail ectodermal dysplasia (PHNED), a rare genetic disorder marked by complete alopecia and nail dystrophy. Researchers identified a homozygous frameshift mutation in the HOXC13 gene, located on chromosome 12q, which was linked to the condition. This mutation resulted in the mislocalization of the HOXC13 protein within the cytoplasm and its inability to activate target gene promoters. The findings highlighted the essential role of the HOXC13 gene in human hair and nail development.

View this study on onlinelibrary.wiley.com →

Discuss this study in the Community →

Research cited in this study

14 / 14 results

research Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia

74 citations , October 2012 in “The American Journal of Human Genetics”

Mutations in the HOXC13 gene cause hair and nail development issues.

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

68 citations , December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology”

HOXC13 is essential for hair and nail development by regulating Foxn1.

research Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia Linked to Chromosome 12p11.1-q14.3 Without KRTHB5 Gene Mutation

11 citations , July 2010 in “European Journal of Dermatology”

The condition is linked to chromosome 12, but no mutations were found in the known genes.

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

42 citations , October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the KRT85 gene cause hair and nail problems.

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

35 citations , August 2009 in “Differentiation”

Desmoglein 4 is controlled by specific proteins that affect hair growth.

research The Human Keratins: Biology And Pathology

1398 citations , May 2008 in “Histochemistry and Cell Biology”

Keratins are crucial for cell stability, wound healing, and cancer diagnosis.

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

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

65 citations , July 2006 in “Journal of biological chemistry/The Journal of biological chemistry”

The gene Foxq1, controlled by Hoxc13, is crucial for hair follicle differentiation.

research A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type

60 citations , March 2006 in “Journal of Medical Genetics”

A mutation in the KRTHB5 gene causes hair and nail issues.

research Krtap16: Characterization of a New Hair Keratin-Associated Protein Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13

47 citations , September 2004 in “Journal of Biological Chemistry”

Hoxc13 regulates specific hair protein genes on mouse chromosome 16.

research Expression of Hair Keratins in the Adult Nail Unit: An Immunohistochemical Analysis of Onychogenesis in the Proximal Nail Fold, Matrix, and Nail Bed

110 citations , August 2004 in “British Journal of Dermatology”

The ventral matrix is the main source of the nail plate.

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

132 citations , February 2002 in “Journal of Biological Chemistry”

HOXC13 is crucial for regulating hair keratin genes in hair follicles.

research The Catalog of Human Hair Keratins

272 citations , September 2001 in “Journal of Biological Chemistry”

Human hair keratins were cataloged, showing their roles in hair differentiation stages.

research Overexpression of Hoxc13 in Differentiating Keratinocytes Results in Downregulation of a Novel Hair Keratin Gene Cluster and Alopecia

114 citations , May 2001 in “Development”

Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.

research The Catalog of Human Hair Keratins

235 citations , July 1999 in “Journal of biological chemistry/The Journal of biological chemistry”

Human hair is made up of different keratins, some strong and some weak, with specific types appearing at various stages of hair growth.

Similar Research

5 / 290 results

Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review

A Homozygous Frameshift Mutation in the HOXC13 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 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 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

Related Community Posts Join

Similar Research

research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review

research Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia

research Specific Ectodermal Enhancers Control the Expression of Hoxc Genes in Developing Mammalian Integuments

research Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits

research Molecular Genetics of Alopecias