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

May 2012 in “ Archives of Dermatological Research ”

Katalin Farkas, Nikoletta Nagy, Ágnes Kinyó, Lajos Kemény, Márta Széll

HR gene missense mutation Marie Unna Hereditary Hypotrichosis 1 alopecia universalis heterozygous wild type sequence non-coding region direct sequencing mutation MUHH1 total hair loss genetic variation normal gene sequence non-coding DNA gene sequencing

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

In 2012, researchers identified a novel missense mutation in the HR gene (c.974G/A, p.Gly325Asp) in a 68-year-old Hungarian woman with an unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 (MUHH1), which included alopecia universalis and limb deformities of all four extremities. This mutation was found to be heterozygous in the affected patient, while her clinically unaffected son and unrelated controls carried the wild type sequence. The study suggested that while the association between HR gene mutations and alopecia is well-established, further research is needed to determine if this specific mutation or another one in the non-coding region of the HR gene or neighboring genes is responsible for the limb deformities observed. The study involved direct sequencing of the coding regions of the HR gene from the patient, her son, and unrelated controls.

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research Marie Unna Hereditary Hypotrichosis: Identification of a U2HR Mutation in the Family from the Original 1925 Report

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

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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 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.

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 cited in this study

research Marie Unna Hereditary Hypotrichosis: Identification of a U2HR Mutation in the Family from the Original 1925 Report

research Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation

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

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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