Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome

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• 作者：Kouichi Inukai ; Takuya Awata ; Kiyoaki Inoue ; Susumu Kurihara ; Youhei Nakashima ; Masaki Watanabe ; Takahiro Sawa ; Nobuki Takata and Shigehiro Katayama
• 关键词：Wolfram syndrome ; Hypopituitarism ; WFS1
• 刊名：Diabetes Research and Clinical Practice
• 出版年：2005
• 出版时间：2005
• 年：2005
• 卷：69
• 期：2
• 页码：136-141
• 全文大小：221 K

文摘

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.