A novel mutation of U2HR causes type 1 Marie Unna hereditary hypotrichosis in a Chinese family

Abstract

Objective To do genetic and clinical analysis in an autosomal dominant hereditary hypotrichosis family.Methods Family investigation,pedigree analysis and clinical examination were performed.Collected the clinical data and extracted the genomic DNA from the blood samples of the family members.The genetic analysis was carried out in the code region of HR gene and U2HR gene by direct DNA sequencing.Result There were 9 patients with hypotrichosis in the family,which were characterized by sparse hair and eyebrow at first.Gradually,the hair became more and more sparse and fragile.Genetic diagnosis demonstrated a novel mutation,c.103T ＞ C (X35Q) in U2HR in the affected family members,which not found in the healthy controls.The mutation abolish the stop code TAG and code glutamine (Gln,Q).Conclusion The clinical and genetic findings accord with the diagnosis of type 1Marie Unna hereditary hypotrichosis in this family.Mutation c.103T ＞ C of U2HR gene is novel in Chinese patients. Key words: Marie Unna hereditary hypotrichosis; U2HR; Genetic diagnosis; Pedigree