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

Brugger, Melanie; Becker-Dettling, Fiona; Brunet, Theresa; Strom, Tim; Meitinger, Thomas; Lurz, Eberhard; Borggraefe, Ingo und Wagner, Matias (2020): A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. In: Annals of Clinical and Translational Neurology, Bd. 8, Nr. 1: S. 278-283

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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 2328-9503
• Sprache: Englisch