Early Onset of Mody5 Due to Haploinsufficiency of HNF1B
نویسندگان
چکیده
منابع مشابه
Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia
Patients with an HNF1B(S148L/+) mutation (MODY5) typically exhibit pancreatic hypoplasia. However, the molecular mechanisms are unknown due to inaccessibility of patient material and because mouse models do not fully recapitulate MODY5. Here, we differentiated MODY5 human-induced pluripotent stem cells (hiPSCs) into pancreatic progenitors, and show that the HNF1B(S148L/+) mutation causes a comp...
متن کاملA Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)
Maturity-onset diabetes of the young (MODY) is both a genetically and clinically heterozygous type of diabetes mellitus characterized by early onset (often before 25 yr of age) and absence of pancreatic β-cell autoimmunity markers (1). To date, mutations in several distinct genes have been implicated in MODY (1, 2). Among the different types of MODY, MODY5 is caused by mutations in the gene enc...
متن کاملPectus excavatum is part of the clinical spectrum of HNF1B MODY5.
HNF1B maturity-onset diabetes of the young (MODY) (previously named MODY5) is a syndrome due to heterozygous molecular anomalies of the hepatocyte nuclear factor (HNF)1B that may associate diabetes, morphological and functional abnormalities of the kidneys and of the pancreas, liver test anomalies, and genital tract malformations (1,2). MODY5 is due to HNF1B point mutations in half the cases, a...
متن کاملIdentification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)
Mutation in HNF1B, the hepatocyte nuclear factor-1β (HNF-1β) gene, results in maturity-onset diabetes of the young (MODY) 5, which is characterized by gradual impairment of insulin secretion. However, the functional role of HNF-1β in insulin secretion and glucose metabolism is not fully understood. We identified a family with early-onset diabetes that fulfilled the criteria of MODY. Sanger sequ...
متن کاملEarly Puberty Due to Ovarian Granulosa Tumor
A 7½-year-old girl is reported showing precocious puberty and large abdominal mass for a year. The right ovarial cyst removed by surgery revealed histopathologically a granulosa cell tumor. After removal of the tumor the estrogens were still increased and the signs of puberty showed no regression. This seems to be due to the hormonal activity of the metastases. Liver metastasis was present a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: AACE Clinical Case Reports
سال: 2020
ISSN: 2376-0605
DOI: 10.4158/accr-2020-0161