Atrichia With Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

January 2013 in “ Dermatology ”

Shuang Wang, Chen‐Pei D. Tu, Yuandong Feng, Xiaopeng Wang, Dingwei Zhang, Shengxiang Xiao

atrichia with papular lesions APL hairless gene HR nonsense mutation 2bp deletion exon 10 phenotypic heterogeneity congenital atrichia founder genes modifier genes

TLDR New genetic mutations causing hair loss were found in a Chinese family.

The study investigated congenital atrichia with papular lesions (APL) in a non-consanguineous Chinese family, identifying novel compound heterozygous mutations in the hairless gene (HR). DNA sequencing revealed a nonsense mutation c.T2265A in the patient and his father, and a 2bp deletion (3482delCT) in the patient and his mother. This research marked the first identification of a mutation in exon 10 of HR and added new variants to the understanding of HR mutations in APL. The study also suggested that phenotypic heterogeneity in congenital atrichia might be influenced by founder genes or modifier genes.

View this study on karger.com →

Discuss this study in the Community →

Research cited in this study

5 / 5 results

research Detection of a Novel Missense Mutation in Atrichia with Papular Lesions

4 citations, January 2011 in “Annals of Dermatology”

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation

3 citations, March 2010 in “Dermatologica Sinica”

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

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

19 citations, May 2006 in “Clinical and Experimental Dermatology”

Researchers found a new mutation causing total hair loss from birth.

research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia

26 citations, October 2002 in “Journal of Investigative Dermatology”

A specific gene mutation causes congenital hair loss.

research Pathobiology of the Hairless Phenotype: Dysregulation of Hair Follicle Apoptosis and Topobiology During the Initiation of Follicle Cycling

9 citations, March 1998 in “Journal of Dermatological Science”

Improper regulation of hair follicle processes causes hairlessness.

Similar Research

5 / 325 results

research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families

3 citations, February 2020 in “The journal of gene medicine”

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

research Dermatopathology and Molecular Genetics

12 citations, February 2008 in “Journal of The American Academy of Dermatology”

Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.

Disease Causing Homozygous Variants in the Human Hairless Gene

Atrichia With Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

Research cited in this study

research Detection of a Novel Missense Mutation in Atrichia with Papular Lesions

research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation

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

research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia

research Pathobiology of the Hairless Phenotype: Dysregulation of Hair Follicle Apoptosis and Topobiology During the Initiation of Follicle Cycling

Related Community Posts Join

Similar Research

research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families

research Dermatopathology and Molecular Genetics

research Disease Causing Homozygous Variants in the Human Hairless Gene

research Detection of a Novel Missense Mutation in Atrichia with Papular Lesions

research Atrichia With Papular Lesions Confirmed Via Genetic Testing: A Case Report