title: Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
abstract: Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS. We report herein a Japanese family, of which two members had this syndrome. In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins). In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS. As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.
authors: Division of Endocrinology and Diabetes, Department of Medicine, Saitama Medical School, Morohongo 38, Moroyama, Iruma-gun, Saitama 350-0495, Japan. inukai@saitama-med.ac.jp
authors: Kouichi
authors: K
authors: Inukai
authors: Takuya
authors: T
authors: Awata
authors: Kiyoaki
authors: K
authors: Inoue
authors: Susumu
authors: S
authors: Kurihara
authors: Youhei
authors: Y
authors: Nakashima
authors: Masaki
authors: M
authors: Watanabe
authors: Takahiro
authors: T
authors: Sawa
authors: Nobuki
authors: N
authors: Takata
authors: Shigehiro
authors: S
authors: Katayama
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D000595:Amino Acid Sequence; D004251:DNA Transposable Elements / Q000235:genetics*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D019382:Human Growth Hormone / Q000097:blood; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007564:Japan; D007986:Luteinizing Hormone / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011388:Prolactin / Q000097:blood; D013972:Thyrotropin / Q000097:blood; D014929:Wolfram Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004251:DNA Transposable Elements; D008565:Membrane Proteins; C114987:wolframin protein; D019382:Human Growth Hormone; D000324:Adrenocorticotropic Hormone; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013972:Thyrotropin; D006854:Hydrocortisone