Disease Causing Homozygous Variants in the Human Hairless Gene

December 2015 in “ International Journal of Dermatology ”

Sabba Mehmood, Abid Jan, Syed M. Raza, Farooq Ahmad, Muhammad Younus, Irfan Ullah, Shamim Shahi, Muhammad Ayub, Saadullah Khan

hairless gene HR gene Atrichia with papular lesions APL homozygous variants pathogenic variants chromosome 8p21.3 mutation spectrum

TLDR New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

The study focused on five consanguineous Pakistani families suffering from Atrichia with papular lesions (APL), which is caused by mutations in the hairless gene (HR) located on chromosome 8p21.3. Linkage analysis confirmed the HR gene's involvement in all families, and sequencing identified a new homozygous nonsense variant in one family, as well as two known pathogenic variants in the remaining families. The research concluded that these mutations add to the known mutation spectrum causing APL and highlighted the need for detailed clinical outcome characterization of these HR gene variants to improve clinical care for affected individuals. The exact number of participants was not provided, but at least two affected individuals from each family were studied.

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research A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

6 citations , May 2012 in “Archives of Dermatological Research”

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

research Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene

17 citations , May 2012 in “Journal of biological chemistry/The Journal of biological chemistry”

Hairless protein affects hair follicle structure by regulating the Dlx3 gene.

research Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript

14 citations , July 2010 in “Experimental Dermatology”

A new mutation in the HR gene causes hair loss in a specific family.

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

181 citations , January 2009 in “Nature Genetics”

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

Disease Causing Homozygous Variants in the Human Hairless Gene

Cited in this study

research A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

research Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene

research Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Hairless Is a Nuclear Receptor Corepressor Essential for Skin Function

research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene

research Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling