Unknown

Dataset Information

0

Chromosome 6q24-related diabetes mellitus.


ABSTRACT: Chromosome 6q24-related diabetes mellitus is the most common cause of transient neonatal diabetes (TNDM), accounting for approximately two-thirds of all TNDM cases. Patients with 6q24-TNDM develop insulin-requiring diabetes soon after birth, followed by the gradual improvement and eventual remission of the disorder by 18 mo of age. The most important clinical feature of affected patients is a small-for-gestational age (SGA) birth weight, which reflects the lack of insulin in utero. It is believed that 6q24-TNDM is caused by the overexpression of the paternal allele of the imprinted locus in chromosome 6q24, which contains only two expressed genes, PLAGL1 and HYMAI. Identified mechanisms include: (1) duplication of the paternal allele, (2) paternal uniparental disomy, and (3) hypomethylation of the maternal allele. Many patients with TNDM relapse after puberty. Relapsed 6q24-related diabetes is no longer transient and typically occurs in non-obese patients who are autoantibody negative. Thus, these patients possess features indistinguishable from those of maturity-onset diabetes of the young (MODY). Conversely, it has been shown that not all patients with 6q24-related diabetes have a history of TNDM. 6q24-related diabetes should therefore be considered as one of the differential diagnoses for patients with MODY-like diabetes, especially when they are SGA at birth.

SUBMITTER: Yorifuji T 

PROVIDER: S-EPMC5897580 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

altmetric image

Publications

Chromosome 6q24-related diabetes mellitus.

Yorifuji Tohru T   Higuchi Shinji S   Hosokawa Yuki Y   Kawakita Rie R  

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 20180413 2


Chromosome 6q24-related diabetes mellitus is the most common cause of transient neonatal diabetes (TNDM), accounting for approximately two-thirds of all TNDM cases. Patients with 6q24-TNDM develop insulin-requiring diabetes soon after birth, followed by the gradual improvement and eventual remission of the disorder by 18 mo of age. The most important clinical feature of affected patients is a small-for-gestational age (SGA) birth weight, which reflects the lack of insulin in utero. It is believe  ...[more]

Similar Datasets

| S-EPMC7534527 | biostudies-literature
| S-EPMC8376448 | biostudies-literature
| S-EPMC4817554 | biostudies-other
2018-04-03 | GSE109265 | GEO
2018-04-03 | GSE109266 | GEO
| S-EPMC7177402 | biostudies-literature
2017-04-22 | GSE98043 | GEO
| S-EPMC6483710 | biostudies-literature
| S-EPMC6169464 | biostudies-literature
2023-10-24 | PXD042188 | Pride