Article
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.
The Journal of clinical endocrinology and metabolism - 1 Jun 2004
Yorifuji Tohru, Kurokawa Keiji, Mamada Mitsukazu, Imai Tsuyoshi, Kawai Masahiko, Nishi Yoshikazu, Shishido Seiichiro, Hasegawa Yukihiro, Nakahata Tatsutoshi
Abstract excerpt
Mutations in the gene coding for hepatocyte nuclear factor-1beta (HNF-1beta) have been known to cause a form of maturity-onset diabetes of the young (MODY5), which is usually characterized by dominantly inherited adolescence-onset diabetes mellitus associated with renal cysts. This report, however, describes recurrence of a novel missense mutation in the HNF-1beta gene, S148W (C443G), in two sibs, one with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.