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High prevalence of diabetes and pre‐diabetes in adults with Williams syndrome
Author(s) -
Pober B.R.,
Wang E.,
Caprio S.,
Petersen K.F.,
Brandt C.,
Stanley T.,
Osborne L.R.,
Dzuria J.,
Gulanski B.
Publication year - 2010
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30261
Subject(s) - diabetes mellitus , medicine , impaired glucose tolerance , endocrinology , metabolic syndrome , area under the curve , glucose tolerance test , type 2 diabetes , insulin , blood sugar regulation , cohort , impaired fasting glucose , insulin resistance
A standard oral glucose tolerance test (OGTT) was administered to 28 adults with Williams syndrome (WS). Three quarters of the WS subjects showed abnormal glucose curves, meeting diagnostic criteria for either diabetes or the pre‐diabetic state of impaired glucose tolerance. Fasting mean glucose and median insulin levels did not differ significantly in the total WS cohort versus age–gender–BMI matched controls, though the glucose area under the curve was greater in the WS subjects. HbA1c levels were not as reliable as the OGTT in diagnosing the presence of diabetes. Given the high prevalence of impaired glucose regulation, adults with WS should be screened for diabetes, and when present should be treated in accordance with standard medical practice. Hemizygosity for a gene mapping to the Williams syndrome chromosome region (WSCR) is likely the major factor responsible for the high frequency of diabetes in WS. Syntaxin‐1A is a prime candidate gene based on its location in the WSCR, its role in insulin release, and the presence of abnormal glucose metabolism in mouse models with aberrantly expressed Stx‐1a . © 2010 Wiley‐Liss, Inc.