A novel m.3395A > G missense mutation in the mitochondrial ND1 gene associated with the new tRNA m.4316A > G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss |
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| Authors: | Imen Chamkha Emna Mkaouar-Rebai Hajer Aloulou Imen Chabchoub Chamseddine Kifagi Nourhene Fendri-Kriaa Thouraya Kammoun Mongia Hachicha Faiza Fakhfakh |
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| Affiliation: | aLaboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia;bService de Pédiatrie, C.H.U. Habib Bourguiba de Sfax, Tunisia;cUnité Cible pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax, Université de Sfax, Tunisia |
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| 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 tRNAIle 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. |
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| Keywords: | m.3395A > G m.4316A > G ND1 gene tRNAIle gene Cardiomyopathy Hearing loss |
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