A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia

I. Klein, Reuven Bergman, Margerita Indelman, Eli Sprecher

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Congenital atrichias represent a large and heterogeneous group of inherited hair disorders. In this report, we describe a patient affected with alopecia universalis congenita (MIM 203655). Sequence analysis revealed a G to A transition at cDNA position 3034 of the hairless hr gene present in a homozygous state in the patient and in a heterozygous state in the patient's mother, and absent in the patient's sister. The mutation is predicted to result in the substitution of an asparagine residue for an aspartate amino acid (D1012N) at a position previously shown in the rat to affect hairless binding to thyroid hormone receptor. This study presents the first evidence in humans for the functional importance of the hairless thyroid receptor interacting domain 2.

Original languageEnglish
Pages (from-to)920-922
Number of pages3
JournalJournal of Investigative Dermatology
Volume119
Issue number4
DOIs
Publication statusPublished - 2002

Fingerprint

Thyroid Hormone Receptors
Asparagine
Missense Mutation
Aspartic Acid
Rats
Thyroid Gland
Substitution reactions
Complementary DNA
Genes
Amino Acids
Hair
Sequence Analysis
Siblings
Mothers
Mutation

Keywords

  • Alopecia
  • Atrichia
  • Genetics
  • Hair
  • Hairless

ASJC Scopus subject areas

  • Dermatology

Cite this

A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia. / Klein, I.; Bergman, Reuven; Indelman, Margerita; Sprecher, Eli.

In: Journal of Investigative Dermatology, Vol. 119, No. 4, 2002, p. 920-922.

Research output: Contribution to journalArticle

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