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Article

Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations.

Human molecular genetics - 15 Apr 2020

Gutiérrez Cortés Nicolás, Pertuiset Claire, Dumon Elodie, Börlin Marine, Da Costa Barbara, Le Guédard Marina, Stojkovic Tanya, Loundon Natalie, Rouillon Isabelle, Nadjar Yann, Letellier Thierry, Jonard Laurence, Marlin Sandrine, Rocher Christophe

Abstract excerpt

A non-synonymous mtDNA mutation, m.3395A > G, which changes tyrosine in position 30 to cysteine in p.MT-ND1, was found in several patients with a wide range of clinical phenotypes such as deafness, diabetes and cerebellar syndrome but no Leber's hereditary optic neuropathy. Although this mutation has already been described, its pathogenicity has not been demonstrated. Here, it was found isolated for the first...

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PMID: 32011699
DOI: 10.1093/hmg/ddaa020

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