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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Azabdaftari, A; Sczakiel, HL; Danyel, M; Kohlmaier, B; Mache, CJ; Stalke, A; Pfister, ED; Thumfart, J; Henning, S; Knisely, AS; Bufler, P.
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Liver Int. 2023; Doi: 10.1111/liv.15563
Web of Science PubMed FullText FullText_MUG

 

Co-Autor*innen der Med Uni Graz
Knisely Alexander
Kohlmaier Benno
Mache Christoph
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Abstract:
Neonatal sclerosing cholangitis (NSC) is associated with progressing biliary fibrosis that often requires liver transplantation in childhood. Several recent studies have identified variants in DCDC2, encoding doublecortin domain-containing protein 2 (DCDC2), expressed in primary cilia, that accompany syndromic disease and NSC. We report four patients with hepatobiliary disease associated with two novel homozygous or compound heterozygous variants in DCDC2. Three patients with protein-truncating variants in DCDC2, expressing no DCDC2, presented with the originally described severe hepatic phenotype in infancy. One patient with a novel homozygous DCDC2 missense variant shows a markedly milder phenotype only manifest in childhood and with retained DCDC2 expression. Concomitant nephronophthisis is present in three patients and learning disability in two. This report widens the phenotypic spectrum of DCDC2-associated hepatobiliary disease. Testing for DCDC2 expression and DCDC2 variants should be included in the evaluation of cholangiopathy of unknown aetiology in childhood as well as in infancy.

Find related publications in this database (Keywords)
ciliopathy
doublecortin domain containing protein 2
neonatal cholestasis
neonatal sclerosing cholangitis
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