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Article

Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.

Human mutation - 1 Jun 2015

Webb Bryn D, Wheeler Patricia G, Hagen Jacob J, Cohen Ninette, Linderman Michael D, Diaz George A, Naidich Thomas P, Rodenburg Richard J, Houten Sander M, Schadt Eric E

Abstract excerpt

Novel, single-nucleotide mutations were identified in the mitochondrial methionyl amino-acyl tRNA synthetase gene (MARS2) via whole exome sequencing in two affected siblings with developmental delay, poor growth, and sensorineural hearing loss.We show that compound heterozygous mutations c.550C>T:p.Gln 184* and c.424C>T:p.Arg142Trp in MARS2 lead to decreased MARS2 protein levels in patient lymphoblasts. Analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25754315
DOI: 10.1002/humu.22781
PMCID: PMC4439286

Genes

MARS2
NDUFB8

Variants

Provenance

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