A Japanese Case with Frasier Syndrome Caused by the Splice Junction Mutation of WT1 Gene

Endocrine Journal

SHUJI ABE¹  HIROYUKI TOCHIMARU¹  TOSHIHIRO TAJIMA¹  JUN NAKAE¹  KENJI FUJIEDA¹  SATOSHI SASAKI¹  KOJI OKUHARA¹ 

[1] Department of Pediatrics, Hokkaido University School of Medicine

关键词: WT1 gene;    Frasier syndrome;    Gonadoblastoma;    Splice junction mutation;   

DOI  :  10.1507/endocrj.46.639

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(12)Cited-By(5)The Wilms' tumor suppressor gene, WT1, plays an important role in the development of the urogenital system and also subsequent normal function of this system. Recently, the splice mutations in intron 9 of WT1 gene have been detected in Frasier syndrome, which is characterized by streak gonads, pseudohermaphroditism, slowly progressive nephropathy and frequent development of gonadoblastoma. Here to elucidate the molecular basis in a Japanese patient of Frasier syndrome, WT1 gene was analyzed by polymerase-chain-reaction (PCR) and direct sequencing. We identified the splice junction mutation in intron 9 of WT1, which is recognized as a mutation hot-spot in intron 9. This finding concludes that 1) the mutation in intron 9 might be the cause of Frasier syndrome, and 2) the mutation hot-spot in Japanese and Caucasian patients is similar.

【 授权许可】

Unknown