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Article

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Human mutation - 1 Jul 2022

Meyer Alayne P, Forrest Megan E, Nicolau Stefan, Wiszniewski Wojciech, Bland Mary Pat, Tsao Chang-Yong, Antonellis Anthony, Abreu Nicolas J

Abstract excerpt

Heterozygosity for missense variants and small in-frame deletions in GARS1 has been reported in patients with a range of genetic neuropathies including Charcot-Marie-Tooth disease type 2D (CMT2D), distal hereditary motor neuropathy type V (dHMN-V), and infantile spinal muscular atrophy (iSMA). We identified two unrelated patients who are each heterozygous for a previously unreported missense variant modifying...

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PMID: 35332613
DOI: 10.1002/humu.24372
PMCID: PMC9247498

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