title: Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review.
abstract: Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of genetic hair loss. U2HR gene dysfunction has been identified as the pathogenic change of this disease. Herein we present a four-generation Chinese family of 15 patients carrying MUHH, and detected a recurrent missense mutation in U2HR gene, c.74C>T (p.P25L), previously reported in a Jewish Ashkenazi MUHH family. The literature review concluded that there were 16 mutations of the U2HR gene in patients with MUHH of different origins, and indicated two mutation hot spots (amino acids 1-7 and 24-28) but no clear genotype-phenotype correlations.
authors.affiliation: Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
authors.forename: Jianqiang
authors.initials: J
authors.lastname: Yang
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Liang
authors.forename: Kang
authors.initials: K
authors.lastname: Zeng
authors.forename: Liang
authors.initials: L
authors.lastname: Huang
authors.forename: Min
authors.initials: M
authors.lastname: Zheng
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C490267:HR protein, human; D014157:Transcription Factors