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Review
. 2021 Oct;100(4):447-452.
doi: 10.1111/cge.14012. Epub 2021 Jun 30.

Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review

Hannes Syryn  1 , Anne Hoorens  2 , Tassos Grammatikopoulos  3 , Maesha Deheragoda  4 , Sofie Symoens  1 , Saskia Vande Velde  5 , Stephanie Van Biervliet  5 , Myriam Van Winckel  5 , Patrick Verloo  6 , Bert Callewaert  1 , Ruth De Bruyne  5
Affiliations
Review

Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review

Hannes Syryn et al. Clin Genet. 2021 Oct.

Abstract

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.

Keywords: DCDC2; ciliopathy; intellectual disability; neonatal sclerosing cholangitis.

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References

REFERENCES

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