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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)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
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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
Language english
Publication Year 2021
Prepublished in Year 2020
HGF-reported in Year 2020
ISSN (print) / ISBN 2328-9503
e-ISSN 2328-9503
Journal Annals of Clinical and Translational Neurology
Quellenangaben Volume: 8, Issue: 1, Pages: 278-283 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Chichester [u.a.]
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503200-001
Grants Genetic testing
DOI 10.1002/acn3.51260
WOS ID WOS:000595024300001
Scopus ID 85096993045
PubMed ID 33259146
Erfassungsdatum 2020-12-09
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