Mody 14 E11.-

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Maturity-onset diabetes of the young, type 14; MODY14; MODY Type 14; OMIM 616511

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MODY is the acronym for "Maturity-onset Diabetes of the Young" and describes a group of autosomal-dominantly inherited, genetically heterogeneous, not always insulin-dependent forms of diabetes. The MODY forms of diabetes are caused by various disorders of beta cell function in the pancreas. The body weight of MODY patients is usually normal. Neither are any of the autoimmune phenomena characteristic of type 1 diabetes observed. Rare are other associated organ dysplasias (eyes, pancreas, intestine).

MODY 14 is triggered by a heterozygous inherited mutation in the APPL1 gene. The gene is located on chromosome 3p14.3 and codes for the adaptor protein in insulin and the adiponectin signaling pathway.

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Prudente et al (2015) performed a sequencing of the entire exon in 60 families in which diabetes occurred in at least 3 consecutive generations. Mutations in the 6 most frequent MODY genes could not be identified (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 an Italian 4th generation family and a missense mutation (D94N; 604299.0002) in a US 4th generation family. The average age at diagnosis was 38 years. Mutations in the APPL1 gene were detectable. In a Chinese collective, mutations in the APPL1 gene correlated with fatty tissue distribution disorders.

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  1. Prudente S et al (2015) Loss-of-function mutations in APPL1 in familial diabetes mellitus. Am. J. Hum. Genet 97: 177-185
  2. Fang QC et al (2008) Association of variants in APPL1 gene with body fat and its distribution in Chinese patients with type 2 diabetic mellitus. Zhonghua Yi Xue Za Zhi 88:369-373.

Incoming links (2)

Appl1 gene; Mody;

Outgoing links (2)

Appl1 gene; Heterozygosity;


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Last updated on: 29.10.2020