GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants

We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain significance. Those with pathogenic variants had c...

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Bibliographic Details
Published in:Diabetes research and clinical practice 2019-05, Vol.151, p.231-236
Main Authors: Sanyoura, May, Letourneau, Lisa, Knight Johnson, Amy E., del Gaudio, Daniela, Greeley, Siri Atma W., Philipson, Louis H., Naylor, Rochelle N.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Diabetes Mellitus, Type 2 - diagnosis
Diabetes Mellitus, Type 2 - epidemiology
Diabetes Mellitus, Type 2 - pathology
Female
Glucokinase
Glucokinase - genetics
Humans
Male
MODY
Monogenic diabetes
Next-generation sequencing
Pathogenic variants
Registries
United States
Young Adult
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Summary:We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain significance. Those with pathogenic variants had clinical features consistent with GCK-MODY.
ISSN:0168-8227
1872-8227
DOI:10.1016/j.diabres.2019.04.017