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Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome.

Authors :
Qin, Litao
Hou, Qiaofang
Wang, Hongdan
Lou, Guiyu
Li, Tao
Wang, Li
Liu, Hongyan
Liao, Shixiu
Li, Xiaobo
Li, Xichuan
Source :
Clinica Chimica Acta. Oct2017, Vol. 473, p26-31. 6p.
Publication Year :
2017

Abstract

Donohue syndrome (DS), a rare autosomal recessive disease which represents severe insulin resistance, pre- and postnatal growth retardation, hypertrichosis, and dysmorphic features, is caused by mutations in the insulin receptor ( INSR ) gene. Here, we have reported the clinical, molecular, and biochemical characterizations of a patient with DS. In this article, we have also reported a case with 2 novel INSR mutations and the DS phenotype. Using next-generation sequencing (NGS), we screened 27 known genes involved in inherited maturity-onset diabetes of the young (MODY) and identified compound heterozygous mutations in the INSR gene in the patient with DS, c.62T > G (p.L21R) and c.2563G > T (p.V855F). The positive correlation of these mutations with DS was further validated by Sanger DNA sequencing of his lineal consanguinity, indicating that these pathogenic mutations were inherited maternally and paternally, respectively. Therefore, our finding expanded the number of reported cases of this rare disease and the mutation spectrum of INSR mutation, suggesting that NGS is an accurate, rapid, and cost-effective method for the genetic diagnosis of this rare disease. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00098981
Volume :
473
Database :
Academic Search Index
Journal :
Clinica Chimica Acta
Publication Type :
Academic Journal
Accession number :
125140432
Full Text :
https://doi.org/10.1016/j.cca.2017.08.007