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A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
Ann. Clin. Transl. Neurol. 8, 278-283 (2021)
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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Core Vesicle Maturation; Trafficking; Biogenesis
ISSN (print) / ISBN
2328-9503
e-ISSN
2328-9503
Quellenangaben
Volume: 8,
Issue: 1,
Pages: 278-283
Publisher
Wiley
Publishing Place
Chichester [u.a.]
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
Genetic testing