Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Age of Onset
Alleles
Biopsy
Cholangitis, Sclerosing
/ diagnosis
Consanguinity
DNA Mutational Analysis
Developmental Disabilities
/ diagnosis
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Infant, Newborn
Microtubule-Associated Proteins
/ genetics
Mutation
Phenotype
Exome Sequencing
DCDC2
ciliopathy
intellectual disability
neonatal sclerosing cholangitis
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
revised:
17
06
2021
received:
26
01
2021
accepted:
19
06
2021
pubmed:
23
6
2021
medline:
1
2
2022
entrez:
22
6
2021
Statut:
ppublish
Résumé
Ciliopathies are a group of clinical and molecular heterogeneous conditions with pleiotropic manifestations affecting the central nervous system, renal, liver, skeletal, and ocular systems. Biallelic pathogenic variants in DCDC2 cause a ciliopathy primarily presenting with neonatal sclerosing cholangitis (NSC). Pathogenic variants in DCDC2 have further been reported in the context of nephronophthisis and non-syndromic recessive deafness. Polymorphisms in DCDC2 have also been associated with dyslexia and DCDC2 has a role in neuronal development. We report on two unrelated patients with DCDC2-related NSC with additional central nervous system impairment manifesting as microcephaly, global developmental delay, and axial hypotonia. Histological findings of our patients can mimic biliary atresia or congenital hepatic fibrosis. We further show that transmission electron microscopy in patients with NSC does not always show absence of primary cilia. Hence patients with DCDC2 pathogenic variants should also undergo an evaluation of neuromotor development. Review of all reported patients further reveals a risk for supra-aortic arterial aneurysms.
Substances chimiques
DCDC2 protein, human
0
Microtubule-Associated Proteins
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
447-452Informations de copyright
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
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