title: Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.
abstract: Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant genodermatosis characterized by progressive non-scarring hair loss. Mutation of the U2HR gene, located in chromosome 8p21, is generally responsible for MUHH development. Until now, 17 mutations of U2HR have been identified from various ethnic backgrounds, but U2HR mutations have been identified mostly in Chinese families and only one Japanese patient with MUHH among Asian populations. Here, we report the first Korean case of MUHH with a novel heterozygous missense mutation (c.80C>T) in U2HR that has not been documented to date. Genetic analysis further revealed that this mutation is responsible for the hair morphology phenotype presented in this case. This finding contributes to expansion of the mutant spectrum of U2HR, supporting the possibility of racial differences in terms of genetic mutations of MUHH.
authors: Department of Dermatology, Chonbuk National University Medical School, Jeonju, Korea; Research Institute of Clinical Medicine of Chonbuk National University-Biochemical Research Institute of Chonbuk National University Hospital, Jeonju, Korea.
authors: Seok-Kweon
authors: SK
authors: Yun
authors: Yong-Gon
authors: YG
authors: Cho
authors: Ki Hun
authors: KH
authors: Song
authors: Su-Ran
authors: SR
authors: Hwang
authors: Sung-Joo
authors: SJ
authors: Kim Yoon
authors: Keon-Woo
authors: KW
authors: Choi
authors: Han-Uk
authors: HU
authors: Kim
authors: Jin
authors: J
authors: Park
mesh_terms: D016022:Case-Control Studies; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital* / Q000235:genetics; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D056910:Republic of Korea; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: C490267:HR protein, human; D014157:Transcription Factors