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Article

Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies.

Human molecular genetics - 19 Feb 2023

Török Ferenc, Tezcan Kamer, Filippini Ludovica, Fernández-Quintero Monica L, Zanetti Lucia, Liedl Klaus R, Drexel Raphaela S, Striessnig Jörg, Ortner Nadine J

Abstract excerpt

Germline gain-of-function missense variants in the pore-forming Cav1.3 α1-subunit (CACNA1D gene) confer high risk for a severe neurodevelopmental disorder with or without endocrine symptoms. Here, we report a 4-week-old new-born with the novel de novo missense variant F747S with a so far not described prominent jittering phenotype in addition to symptoms previously reported for CACNA1D mutations including...

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Identifiers

PMID: 36208199
DOI: 10.1093/hmg/ddac248
PMCID: PMC9941835

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