Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)

Xiaoyu Xiao; Lili Liu; Yang Xiao; Zhiguo Xie; Long Li; Houde Zhou; Weili Tang; Shiping Liu; Zhiguang Zhou

doi:10.1111/1753-0407.12849

Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)

J Diabetes. 2019 Jan;11(1):83-86. doi: 10.1111/1753-0407.12849. Epub 2018 Oct 17.

Authors

Xiaoyu Xiao^{1

2}, Lili Liu^{1

2}, Yang Xiao^{1

2}, Zhiguo Xie^{1

2}, Long Li^{1

2}, Houde Zhou^{1

2}, Weili Tang^{1

2}, Shiping Liu^{1

2}, Zhiguang Zhou^{1

2}

Affiliations

¹ Department of Metabolism & Endocrinology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
² Key Laboratory of Diabetes Immunology (Central South University), Ministry of Education, National Clinical Research Center for Metabolic Diseases, Changsha, Hunan, China.

Abstract

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.

Keywords: MODY; diabetes; insulin gene; mutation.

Publication types

Case Reports

MeSH terms

Adult
Aged
Aged, 80 and over
Amino Acid Sequence
Diabetes Mellitus, Type 2 / genetics*
Diabetes Mellitus, Type 2 / pathology
Female
Frameshift Mutation*
Humans
Insulins / genetics*
Male
Middle Aged
Pedigree
Phenotype

Substances

Insulins

Abstract

Publication types

MeSH terms

Substances

Grants and funding