title: A novel SNP in 3' UTR of INS gene: A case report of neonatal diabetes mellitus.
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.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah 21955, Saudi Arabia. Electronic address: NMbogari@uqu.edu.sa.
authors.forename: Neda M
authors.initials: NM
authors.lastname: Bogari
authors.affiliation: Department of Pediatrics, Maternity and Children's Hospital, Makkah 21955, Saudi Arabia.
authors.forename: Husni H
authors.initials: HH
authors.lastname: Rayes
authors.affiliation: Department of Pediatrics, Maternity and Children's Hospital, Makkah 21955, Saudi Arabia.
authors.forename: Fakri
authors.initials: F
authors.lastname: Mostafa
authors.affiliation: Division of Human Genetics & Genome Research; Department of Molecular Genetics and Enzymology, National Research Centre, 33 Bohouth St. Dokki, Giza, Egypt.
authors.forename: Azza M
authors.initials: AM
authors.lastname: Abdel-Latif
authors.affiliation: Division of Human Genetics & Genome Research; Department of Molecular Genetics and Enzymology, National Research Centre, 33 Bohouth St. Dokki, Giza, Egypt.
authors.forename: Abeer
authors.initials: A
authors.lastname: Ramadan
authors.affiliation: 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.
authors.forename: Faisal A
authors.initials: FA
authors.lastname: Al-Allaf
authors.affiliation: Science and Technology Unit, Umm Al-Qura University, Makkah 21955, Saudi Arabia. Electronic address: TMMohiuddin@uqu.edu.sa.
authors.forename: Mohiuddin M
authors.initials: MM
authors.lastname: Taher
authors.affiliation: 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.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Fawzy
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D001483:Base Sequence; D003920:Diabetes Mellitus / Q000151:congenital* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007328:Insulin / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012529:Saudi Arabia
chemical_list: D020413:3' Untranslated Regions; D007328:Insulin
keywords: Genetic testing; Insulin gene (INS); Kingdom of Saudi Arabia (KSA); Neonatal diabetes mellitus (NDM); Single nucleotide polymorphism (SNP)