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Published on: February 28, 2013
Chromosome 6q24-related diabetes mellitus
Tohru Yorifuji1,2,3, Shinji Higuchi1, Yuki Hosokawa1
1Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
Insights
Transient neonatal diabetes (TNDM) is often caused by chromosome 6q24 gene overexpression. This condition typically resolves by 18 months but can recur later, resembling maturity-onset diabetes of the young (MODY).
Area of Science:
- Genetics
- Endocrinology
- Neonatology
Background:
- Transient neonatal diabetes (TNDM) is a rare condition characterized by insulin-dependent diabetes presenting shortly after birth.
- Chromosome 6q24-related TNDM accounts for about two-thirds of cases, presenting with small-for-gestational age (SGA) birth weight.
- The underlying cause is believed to be overexpression of the paternal allele at the imprinted 6q24 locus, involving PLAGL1 and HYMAI genes.
Purpose of the Study:
- To elucidate the genetic basis and clinical manifestations of chromosome 6q24-related diabetes.
- To understand the mechanisms leading to TNDM and its potential for relapse.
- To highlight the diagnostic considerations for 6q24-related diabetes in patients with MODY-like features.
Main Methods:
- Review of genetic mechanisms causing 6q24-TNDM, including duplication, uniparental disomy, and hypomethylation.
- Analysis of clinical features, including SGA birth weight and disease progression.
- Comparison of relapsed 6q24-related diabetes with maturity-onset diabetes of the young (MODY).
Main Results:
- 6q24-TNDM typically resolves by 18 months of age.
- Relapse after puberty can occur, presenting as non-transient, autoantibody-negative diabetes similar to MODY.
- Some patients with 6q24-related diabetes do not have a history of TNDM.
Conclusions:
- Chromosome 6q24 abnormalities are the primary cause of TNDM and can lead to later-onset diabetes.
- 6q24-related diabetes should be considered in the differential diagnosis of MODY, particularly in SGA individuals.
- Understanding the genetic basis is crucial for accurate diagnosis and management of these diabetes forms.
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.
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