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MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14; MODY14

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14; MODY14

Prudente et al. (2015) performed whole-exome sequencing in 60 families in which diabetes was present in at least 3 consecutive generations; a proband and at leas...

Prudente et al. (2015) performed whole-exome sequencing in 60 families in which diabetes was present in at least 3 consecutive generations; a proband and at least 1 first-degree relative were diagnosed with diabetes before age 35 years; diabetes entered the family from only 1 side; and mutations were not identified in the 6 most common MODY genes (HNF4A, 600281; GCK, 138079; HNF1A, 142410; PDX1, 600733; HNF1B, 189907; NEUROD1, 601724). In 2 families, they identified heterozygous mutations in the APPL1 gene: a nonsense mutation (L552X; 604299.0001) in a 4-generation Italian family, and a missense mutation (D94N; 604299.0002) in a 4-generation U.S. family. Functional analysis indicated that both are loss-of-function mutations. In the Italian family, the 10 unaffected carriers detected were all under 40 years of age and were considered to be still at risk for developing diabetes, since the median age at diagnosis in the family was 38 years. In the U.S. family, one 48-year-old unaffected carrier male was detected.

Tags: 3p14.3