De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

doi:10.1038/s41436-019-0703-y

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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2020

Nabais Sá Maria J, Venselaar Hanka, Wiel Laurens, Trimouille Aurélien, Lasseaux Eulalie, Naudion Sophie, Lacombe Didier, Piton Amélie, Vincent-Delorme Catherine, Zweier Christiane, Reis André, Trollmann Regina, Ruiz Anna, Gabau Elisabeth, Vetro Annalisa, Guerrini Renzo, Bakhtiari Somayeh, Kruer Michael C, Amor David J, Cooper Monica S, Bijlsma Emilia K, Barakat Tahsin Stefan, van Dooren Marieke F, van Slegtenhorst Marjon, Pfundt Rolph, Gilissen Christian, Willemsen Michèl A, de Vries Bert B A, de Brouwer Arjan P M, Koolen David A

Abstract excerpt

PURPOSE: To delineate the genotype-phenotype correlation in individuals with likely pathogenic variants in the CLTC gene. METHODS: We describe 13 individuals with de novo CLTC variants. Causality of variants was determined by using the tolerance landscape of CLTC and computer-assisted molecular modeling where applicable. Phenotypic abnormalities observed in the individuals identified with missense and in-frame...

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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

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