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Article

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.

European journal of medical genetics - 1 Dec 2022

Ait-El-Mkadem Saadi Samira, Kaphan Elsa, Morales Jaurrieta Amaya, Fragaki Konstantina, Chaussenot Annabelle, Bannwarth Sylvie, Maues De Paula André, Paquis-Flucklinger Véronique, Rouzier Cécile

Abstract excerpt

Biallelic rare variants in NARS2 that encode the mitochondrial asparaginyl-tRNA synthetase are associated with a wide spectrum of clinical phenotypes ranging from severe neurodegenerative disorders to isolated mitochondrial myopathy or deafness. To date, only a small number of patients with NARS2 variants have been reported, and possible genotype-phenotype correlations are still lacking. Here, we present three...

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PMID: 36252909
DOI: 10.1016/j.ejmg.2022.104643

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