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Article

Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.

Molecular genetics & genomic medicine - 1 Feb 2025

Del Greco Christina, Kuo Molly E, Smith Desiree E C, Mendes Marisa I, Salamons Gajja S, Nemcovic Marek, Kodrikova Rebeka, Sestak Sergej, Stancheva Malina, Antonellis Anthony

Abstract excerpt

BACKGROUND: Mutations in cysteinyl-tRNA synthetase (CARS1) have been implicated in a multisystem disease including microcephaly, developmental delay, and brittle hair and nail phenotypes. METHODS: Here, we present a patient with hepatopathy, hypothyroidism, short stature, developmental delay, microcephaly, muscular hypotonia, brittle hair, and ataxia. The patient underwent exome sequencing to identify potentially...

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Identifiers

PMID: 39963003
DOI: 10.1002/mgg3.70078
PMCID: PMC11833167

Genes

CARS1

Variants

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