Open AccessA homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy
Author(s) -
Brugger Melanie,
BeckerDettling Fiona,
Brunet Theresa,
Strom Tim,
Meitinger Thomas,
Lurz Eberhard,
Borggraefe Ingo,
Wagner Matias
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51260
Subject(s) - loss function , phenotype , medicine , exome sequencing , gene , failure to thrive , epilepsy , encephalopathy , genetics , bioinformatics , clinical phenotype , biogenesis , biology , psychiatry
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.