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Diabetes Res Clin Pract. 2015 Sep;109(3):e14-7. doi: 10.1016/j.diabres.2015.06.002. Epub 2015 Jul 10.

A novel SNP in 3' UTR of INS gene: A case report of neonatal diabetes mellitus.

Author information

1
Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah 21955, Saudi Arabia. Electronic address: NMbogari@uqu.edu.sa.
2
Department of Pediatrics, Maternity and Children's Hospital, Makkah 21955, Saudi Arabia.
3
Division of Human Genetics & Genome Research; Department of Molecular Genetics and Enzymology, National Research Centre, 33 Bohouth St. Dokki, Giza, Egypt.
4
Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah 21955, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah 21955, Saudi Arabia; Molecular Diagnostics Unit, Department of Laboratory Medicine and Blood Bank, King Abdullah Medical City, Makkah 21955, Saudi Arabia.
5
Science and Technology Unit, Umm Al-Qura University, Makkah 21955, Saudi Arabia. Electronic address: TMMohiuddin@uqu.edu.sa.
6
Division of Human Genetics & Genome Research; Department of Molecular Genetics and Enzymology, National Research Centre, 33 Bohouth St. Dokki, Giza, Egypt. Electronic address: afawzy1978@yahoo.com.

Abstract

Neonatal diabetes mellitus (NDM) is a rare condition with a prevalence of 1 in 300,000 live births. We have found 3 known SNPs in 5'UTR and a novel SNP in 3' UTR in the INS gene. These SNPs were present in 9-month-old girl from Saudi Arabia and also present in the father and mother. The novel SNP we found is not present in 1000 Genome project or other databases. Further, the newly identified 3' UTR mutation in the INS gene may abolish the polyadenylation signal and result in severe RNA instability.

KEYWORDS:

Genetic testing; Insulin gene (INS); Kingdom of Saudi Arabia (KSA); Neonatal diabetes mellitus (NDM); Single nucleotide polymorphism (SNP)

PMID:
26212367
DOI:
10.1016/j.diabres.2015.06.002
[Indexed for MEDLINE]

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