Open AccessNovel frameshift mutation in the insulin ( INS ) gene in a family with maturity onset diabetes of the young (MODY)
Author(s) -
Xiao Xiaoyu,
Liu Lili,
Xiao Yang,
Xie Zhiguo,
Li Long,
Zhou Houde,
Tang Weili,
Liu Shiping,
Zhou Zhiguang
Publication year - 2019
Publication title -
journal of diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.949
H-Index - 43
eISSN - 1753-0407
pISSN - 1753-0393
DOI - 10.1111/1753-0407.12849
Subject(s) - frameshift mutation , medicine , diabetes mellitus , maturity onset diabetes of the young , family history , insulin , mutation , endocrinology , hnf1a , gene mutation , gene , type 2 diabetes , genetics , biology
Highlights This study reports a novel frameshift mutation c.212dupG (p.Gly73fs) in the insulin ( INS ) gene causing maturity onset diabetes of the young (MODY) 10, one of the rare types of MODY, identified in seven family members. Screening for mutations in identified MODY genes is warranted in patients who require insulin, are negative for autoantibodies but have a family history of diabetes.