title: Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation.
abstract: Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations in both nuclear and mitochondrial DNA. In fact, mitochondrial DNA (mtDNA) defects are known to be associated with a large spectrum of human diseases and patients might present wide range of clinical features with various combinations. Our study reported a Tunisian family with clinical features of maternally inherited diabetes and deafness (MIDD). Accordingly, we performed a whole mitochondrial genome mutational analysis, results revealed a haplotype composed by "A750G, A1438G, G8860A, T12705, T14766C and T16519C", in homoplasmic state, in the mother and transmitted to her daughter and her son. The patient with MIDD2 and retinopathy presented, in addition to this haplotype associated to the MIDD, two de novo variations including a novel one m.8241T>G (p. F219C) in MT-CO2 gene and a known one m.13276G>A (p. M314V) in MT-ND5 gene. The coexistence of these two mutations could explain the retinopathy observed in this patient.
authors.affiliation: Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, University of Sfax, Tunisia. Electronic address: mounamouna62@yahoo.fr.
authors.forename: Mouna
authors.initials: M
authors.lastname: Tabebi
authors.affiliation: Service of endocrinology, C.H.U. Habib Bourguiba of Sfax, Tunisia.
authors.forename: Nadia
authors.initials: N
authors.lastname: Charfi
authors.affiliation: Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, University of Sfax, Tunisia.
authors.forename: Fakhri
authors.initials: F
authors.lastname: Kallabi
authors.affiliation: Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, University of Sfax, Tunisia.
authors.forename: Olfa
authors.initials: O
authors.lastname: Alila-Fersi
authors.affiliation: Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, University of Sfax, Tunisia.
authors.forename: Afif
authors.initials: A
authors.lastname: Ben Mahmoud
authors.affiliation: Department of Applied Biology, College of Sciences, University of Sharjah, UAE.
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Tlili
authors.affiliation: Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, University of Sfax, Tunisia.
authors.forename: Leila
authors.initials: L
authors.lastname: Keskes-Ammar
authors.affiliation: Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, University of Sfax, Tunisia.
authors.forename: Hassen
authors.initials: H
authors.lastname: Kamoun
authors.affiliation: Service of endocrinology, C.H.U. Habib Bourguiba of Sfax, Tunisia.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Abid
authors.affiliation: Service of endocrinology, C.H.U. Habib Bourguiba of Sfax, Tunisia.
authors.forename: Mouna
authors.initials: M
authors.lastname: Mnif
authors.affiliation: Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, University of Sfax, Tunisia; Department of life Sciences, Faculty of Science of Sfax, University of Sfax, Tunisia. Electronic address: faiza.fakhfakh02@gmail.com.
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial; D030562:Databases, Protein; D003638:Deafness / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D003930:Diabetic Retinopathy / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D042967:Electron Transport Complex I / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D003576:Electron Transport Complex IV / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D008958:Models, Molecular; D009765:Obesity / Q000097:blood / Q000150:complications / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D017354:Point Mutation; D011487:Protein Conformation; D040681:Structural Homology, Protein; D014416:Tunisia
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; C117108:cytochrome C oxidase subunit II; D003576:Electron Transport Complex IV; D042967:Electron Transport Complex I
keywords: Family; Haplotype; Mitochondrial DNA mutation; Mitochondrial inherited diabetes and deafness; Retinopathy