title: A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
abstract: Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations: m.3395A>G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A>G located in the residue A54 of the tRNA(Ile) gene. These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Chamkha
authors.forename: Emna
authors.initials: E
authors.lastname: Mkaouar-Rebai
authors.forename: Hajer
authors.initials: H
authors.lastname: Aloulou
authors.forename: Imen
authors.initials: I
authors.lastname: Chabchoub
authors.forename: Chamseddine
authors.initials: C
authors.lastname: Kifagi
authors.forename: Nourhene
authors.initials: N
authors.lastname: Fendri-Kriaa
authors.forename: Thouraya
authors.initials: T
authors.lastname: Kammoun
authors.forename: Mongia
authors.initials: M
authors.lastname: Hachicha
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
mesh_terms: D000595:Amino Acid Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007223:Infant; D008928:Mitochondria / Q000201:enzymology*; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D009245:NADH Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D011110:Polymorphism, Genetic; D017433:Protein Structure, Secondary; D012355:RNA, Transfer, Ile / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012355:RNA, Transfer, Ile; D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human