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A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.

ABSTRACT: Coiled-Coil Domain Containing Protein 186 (CCDC186) is hypothesized to play an important role in the biogenesis of dense-core vesicles in neurons and endocrine cells. Biallelic loss-of-function variants in the encoding gene CCDC186 have been suggested as a candidate gene for a neurodevelopmental phenotype, but only one patient has been described so far. We report a second patient with a CCDC186-associated phenotype presenting with developmental delay, epileptic encephalopathy, and failure to thrive. Exome sequencing identified a homozygous loss-of-function variant in CCDC186 (NM_018017.2) c.767C> G; p.(Ser256Ter) thus providing further evidence to support CCDC186 as a new disease gene for an autosomal recessive neurodevelopmental disorder.

SUBMITTER: Brugger M

PROVIDER: S-EPMC7818090 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.

Brugger Melanie M Becker-Dettling Fiona F Brunet Theresa T Strom Tim T Meitinger Thomas T Lurz Eberhard E Borggraefe Ingo I Wagner Matias M

Annals of clinical and translational neurology 20201201 1

Coiled-Coil Domain Containing Protein 186 (CCDC186) is hypothesized to play an important role in the biogenesis of dense-core vesicles in neurons and endocrine cells. Biallelic loss-of-function variants in the encoding gene CCDC186 have been suggested as a candidate gene for a neurodevelopmental phenotype, but only one patient has been described so far. We report a second patient with a CCDC186-associated phenotype presenting with developmental delay, epileptic encephalopathy, and failure to thr ...[more]

PMID: 33259146

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