4.7 Review

Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review

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Summary: This study identified 32 mutations in six genes in 31 families, accounting for 40.79% of potential MODY families. The detection rates of different MODY subtypes were mentioned, along with the identification of new mutations. NEUROG3 was found to be a new causative gene for MODY.

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Summary: Maturity onset diabetes of the young (MODY) is a genetic form of diabetes inherited in an autosomal dominant pattern. This study in Pakistani patients used next-generation sequencing to investigate MODY and identified four heterozygous variants, including a known mutation in the HNF1a gene. This study highlights the potential for future extensive research with larger sample sizes in Pakistan to further understand MODY and its implications for public health burden of diabetes.

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Summary: The study found a prevalence of 6.5% of MODY among paediatric patients in Southern Italy, with glucokinase-MODY being the most common type. Clinical presentation and biochemical data were heterogeneous even among patients belonging to the same MODY group.

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