Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

Journal article

OBJECTIVE: To demonstrate the importance of using a combined genetic and functional approach to correctly interpret a genetic test for monogenic diabetes. RESEARCH DESIGN AND METHODS: We identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GCK-MODY, in whom two potential pathogenic mutations were identified: [R43H/G68D], [E248 K/I225M], or [G261R/D217N]. Allele-specific PCR and cosegregation were used to determine phase. Single and dou...

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Authors: Beer, N; Osbak, K; van de Bunt, M; Tribble, N; Steele, A

• Publication status: Published
• Journal: Diabetes care
• Volume: 35
• Issue: 7
• Pages: 1482-1484
• Publication date: 2012-07-01
• DOI: 10.2337/dc11-2420
• EISSN: 1935-5548
• ISSN: 0149-5992
• Language: English
• Keywords: Diabetes Mellitus, Type 2; Genetic Testing; Pedigree; Mutation, Missense; Female; Male; Heterozygote; Humans; Glucokinase