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Article

A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.

American journal of medical genetics. Part A - 1 Aug 2020

Ope Omotayo, Bhoj Elizabeth J, Nelson Beverly, Li Dong, Hakonarson Hakon, Sobering Andrew K

Abstract excerpt

NALCN encodes a sodium ion leak channel expressed in the nervous system that conducts a persistent influx of sodium ions to facilitate action potential formation. Homozygous or compound heterozygous loss of function variants in NALCN cause infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1; OMIM 615419). Through exome and Sanger sequencing, we found two siblings of Afro-Caribbean...

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Identifiers

PMID: 32618095
DOI: 10.1002/ajmg.a.61744

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