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Brugger, M.* ; Becker-Dettling, F.* ; Brunet, T.* ; Strom, T.* ; Meitinger, T.* ; Lurz, E.* ; Borggraefe, I.* ; Wagner, M.

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

Ann. Clin. Transl. Neurol. 8, 278-283 (2021)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Core Vesicle Maturation; Trafficking; Biogenesis
ISSN (print) / ISBN 2328-9503
e-ISSN 2328-9503
Zeitschrift Annals of Clinical and Translational Neurology
Quellenangaben Band: 8, Heft: 1, Seiten: 278-283 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort Chichester [u.a.]
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen Genetic testing