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

Studysummary This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.

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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.

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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”

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

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”

This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.

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”

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

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”

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

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

35 citations , August 2009 in “Differentiation”

This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.

research The Human Keratins: Biology And Pathology

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

This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.

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”

This study found that overexpression of Hoxc13 in GC13 mouse models affects hair follicle differentiation by interacting with medulla-specific genes, particularly Foxq1, suggesting a regulatory pathway for medulla 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”

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

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”

This study provides evidence supporting a regulatory relationship between the transcriptional regulator Hoxc13 and Krtap16 genes, which are crucial for proper hair growth in mice.

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”

In this study, researchers identified the ventral matrix as the primary source of nail plate formation, while the dorsal portion is generated by the apical matrix.

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

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

This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.

research The Catalog of Human Hair Keratins

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

This study cataloged human type II hair keratins, detailing their expression and differentiation roles in hair follicles and comparing them with type I keratins to explore keratin-pairing principles.

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”

This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.

research The Catalog of Human Hair Keratins

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

This study establishes a catalog of human type I hair keratins and identifies their specific roles and expression patterns during hair differentiation and growth in scalp follicles.

research Hoxc13 Mutant Mice Lack External Hair

245 citations , January 1998 in “Genes & Development”

This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.