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Maturity‐onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing
Author(s) -
Wentworth J. M.,
Lukic V.,
Bahlo M.,
Finlay M.,
Nguyen C.,
Morahan G.,
Harrison L. C.
Publication year - 2014
Publication title -
internal medicine journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 1444-0903
DOI - 10.1111/imj.12584
Subject(s) - hnf1b , exome sequencing , medicine , maturity onset diabetes of the young , disease , exome , mutation , genetics , diabetes mellitus , type 2 diabetes , bioinformatics , gene , endocrinology , biology , gene expression , homeobox
Exome sequencing is being increasingly used to identify disease‐associated gene mutations. We used whole exome sequencing to determine the genetic basis of a syndrome of diabetes and renal disease affecting a mother and her son. We identified a mutation in the hepatocyte nuclear factor 1‐b ( HNF1B ) gene that encoded a methionine to valine amino acid change ( M 160 V ) in the HNF1B protein. This leads us to the previously unappreciated diagnosis of maturity‐onset diabetes of the young type 5 and provided a basis for genetic counselling of other family members.