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

Katalin Farkas, N. Nagy, Ágnes Kinyó, L. Kemény, M. Széll

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Marie Unna Hereditary Hypotrichosis 1 (MUHH1; OMIM 146550), a rare monogenic condition characterized by the development of sparse, twisted hair or complete hair loss, is the consequence of mutations located in the hairless (HR) gene. We have identified a 68-year-old Hungarian woman affected by alopecia universalis and limb deformities of all four extremities. Direct sequencing of the coding regions of the HR gene revealed a novel missense mutation in the third exon of the HR gene (c.974G/A, p.Gly325Asp). The affected family member carried the mutation in a heterozygous form, while the only available, clinically unaffected family member (the son of the patient) and the unrelated controls carried the wild type sequence. The association between the presence of HR gene mutations and the development of alopecia is wellestablished, however, further studies are needed to elucidate the putative role of this novel HR mutation in the development of limb deformities.

Original languageEnglish
Pages (from-to)679-681
Number of pages3
JournalArchives of Dermatological Research
Volume304
Issue number8
DOIs
Publication statusPublished - Oct 2012

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Missense Mutation
Extremities
Phenotype
Mutation
Alopecia
Genes
Genetic Databases
Nuclear Family
Exons
Marie Unna Hereditary Hypotrichosis 1

Keywords

  • Alopecia universalis
  • Hairless gene
  • Limb deformities
  • Marie Unna Hereditary Hypotrichosis 1
  • Mutilation of the fingers

ASJC Scopus subject areas

  • Dermatology

Cite this

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title = "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",
abstract = "Marie Unna Hereditary Hypotrichosis 1 (MUHH1; OMIM 146550), a rare monogenic condition characterized by the development of sparse, twisted hair or complete hair loss, is the consequence of mutations located in the hairless (HR) gene. We have identified a 68-year-old Hungarian woman affected by alopecia universalis and limb deformities of all four extremities. Direct sequencing of the coding regions of the HR gene revealed a novel missense mutation in the third exon of the HR gene (c.974G/A, p.Gly325Asp). The affected family member carried the mutation in a heterozygous form, while the only available, clinically unaffected family member (the son of the patient) and the unrelated controls carried the wild type sequence. The association between the presence of HR gene mutations and the development of alopecia is wellestablished, however, further studies are needed to elucidate the putative role of this novel HR mutation in the development of limb deformities.",
keywords = "Alopecia universalis, Hairless gene, Limb deformities, Marie Unna Hereditary Hypotrichosis 1, Mutilation of the fingers",
author = "Katalin Farkas and N. Nagy and {\'A}gnes Kiny{\'o} and L. Kem{\'e}ny and M. Sz{\'e}ll",
year = "2012",
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volume = "304",
pages = "679--681",
journal = "Archiv für Dermatologische Forschung",
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T1 - 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

AU - Farkas, Katalin

AU - Nagy, N.

AU - Kinyó, Ágnes

AU - Kemény, L.

AU - Széll, M.

PY - 2012/10

Y1 - 2012/10

N2 - Marie Unna Hereditary Hypotrichosis 1 (MUHH1; OMIM 146550), a rare monogenic condition characterized by the development of sparse, twisted hair or complete hair loss, is the consequence of mutations located in the hairless (HR) gene. We have identified a 68-year-old Hungarian woman affected by alopecia universalis and limb deformities of all four extremities. Direct sequencing of the coding regions of the HR gene revealed a novel missense mutation in the third exon of the HR gene (c.974G/A, p.Gly325Asp). The affected family member carried the mutation in a heterozygous form, while the only available, clinically unaffected family member (the son of the patient) and the unrelated controls carried the wild type sequence. The association between the presence of HR gene mutations and the development of alopecia is wellestablished, however, further studies are needed to elucidate the putative role of this novel HR mutation in the development of limb deformities.

AB - Marie Unna Hereditary Hypotrichosis 1 (MUHH1; OMIM 146550), a rare monogenic condition characterized by the development of sparse, twisted hair or complete hair loss, is the consequence of mutations located in the hairless (HR) gene. We have identified a 68-year-old Hungarian woman affected by alopecia universalis and limb deformities of all four extremities. Direct sequencing of the coding regions of the HR gene revealed a novel missense mutation in the third exon of the HR gene (c.974G/A, p.Gly325Asp). The affected family member carried the mutation in a heterozygous form, while the only available, clinically unaffected family member (the son of the patient) and the unrelated controls carried the wild type sequence. The association between the presence of HR gene mutations and the development of alopecia is wellestablished, however, further studies are needed to elucidate the putative role of this novel HR mutation in the development of limb deformities.

KW - Alopecia universalis

KW - Hairless gene

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KW - Marie Unna Hereditary Hypotrichosis 1

KW - Mutilation of the fingers

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