An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY)
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Karolina Antosik
Abstract
Background:
Monogenic diabetes is a rare disease caused by single gene mutations. Maturity onset diabetes of the young (MODY) is one of the major forms of monogenic diabetes recognised in the paediatric population. To date, 13 genes have been related to MODY development. The aim of the study was to analyse the sequence of the BCL2-associated agonist of cell death (BAD) gene in patients with clinical suspicion of GCK-MODY, but who were negative for glucokinase (GCK) gene mutations.
Methods:
A group of 122 diabetic patients were recruited from the “Polish Registry for Paediatric and Adolescent Diabetes – nationwide genetic screening for monogenic diabetes” project. The molecular testing was performed by Sanger sequencing.
Results:
A total of 10 sequence variants of the BAD gene were identified in 122 analysed diabetic patients.
Conclusions:
Among the analysed patients suspected of MODY, one possible pathogenic variant was identified in one patient; however, further confirmation is required for a certain identification.
Acknowledgments:
This study was supported by funds from the National Science Centre, project no. 2011/01/N/NZ5/02758.
Author contributions: All the authors have accepted responsibility for the entire content of the submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
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- Frontmatter
- Editorial
- Disorders of sex development
- Original Articles
- Fertility and sexual function: a gap in training in pediatric endocrinology
- Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre
- Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development
- Sensitivity and specificity of different methods for cystic fibrosis-related diabetes screening: is the oral glucose tolerance test still the standard?
- Anti-hyperglycemic activity of Aegle marmelos (L.) corr. is partly mediated by increased insulin secretion, α-amylase inhibition, and retardation of glucose absorption
- Risk factors that affect metabolic health status in obese children
- Nocturnal levels of chemerin and progranulin in adolescents: influence of sex, body mass index, glucose metabolism and sleep
- Elevated endogenous secretory receptor for advanced glycation end products (esRAGE) levels are associated with circulating soluble RAGE levels in diabetic children
- Food exchange estimation by children with type 1 diabetes at summer camp
- Usefulness of non-fasting lipid parameters in children
- Monitoring steroid replacement therapy in children with congenital adrenal hyperplasia
- Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population
- An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY)
- Case Reports
- Hypogonadotropic hypogonadism in a female patient with congenital arhinia
- Transdermal testosterone gel for induction and continuation of puberty in adolescent boys with hepatic dysfunction
- Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
- Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
