Work

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism

Year: 2025

Type: article

Abstract: BACKGROUND: CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails. Additional multisystem involvement in these five people have included neurologic, cardiac, ophthalmologic and endocrine problems. CASE PRESENTATION: We report a sixth person with novel compound heterozygous variants in CARS1. In addition to the previously reported features such as intellectual disability, neurologic features, microcephaly and hair abnormalities, this patient had persistent hypoglycemia due to congenital hyperinsulinism. CONCLUSIONS: This report identifies two novel variants in CARS1 and expands the phenotype of this multisystem disorder to include congenital hyperinsulinism.

Source: BMC Medical Genomics

DOI: 10.1186/s12920-025-02237-x

Authors: Victoria R. Sanders, Andrew C. Edmondson, Albert C. Yan, Diva D. De Leon

Institutions: Children's Hospital of Philadelphia, University of Pennsylvania

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,190