ArticleAnnals of clinical and translational neurology2021
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Comprehensive Analysis of the Roles of the CCDC Protein Family Play in a Range of 58 Disease Processes.Applied biochemistry and biotechnology · 2026Review
- Streamlining asymmetry quantification in fetal mouse imaging: A semi-automated pipeline supported by expert guidance.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- Functional Evidence ofInternational journal of molecular sciences · 2023Article
- Coiled-Coil Domain-Containing (CCDC) Proteins: Functional Roles in General and Male Reproductive Physiology.Reproductive sciences (Thousand Oaks, Calif.) · 2021Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
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