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Patryk Lipiński¹, Elżbieta Ciara², Dorota Jurkiewicz²

¹Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.

Diagnostics (Basel, Switzerland)

|June 10, 2023

Summary

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This study identifies new pathogenic variants in the DCDC2 gene, confirming its role in hepatic ciliopathy. The findings highlight severe liver disease as the primary manifestation, with kidney involvement being minimal.

Area of Science:

Genetics
Hepatology
Pediatrics

Background:

Next-generation sequencing (NGS) aids in discovering genes linked to ciliopathies, including DCDC2.
Biallelic pathogenic variants in DCDC2 cause a specific form of ciliopathy.

Purpose of the Study:

To report clinical, pathological, and molecular findings in six patients with DCDC2 biallelic pathogenic variants.
To provide a comprehensive overview of DCDC2-related diseases.

Main Methods:

Retrospective chart review of clinical, biochemical, and pathological data.
PubMed search for relevant studies on DCDC2-related disease.
Whole exome sequencing to identify genetic variants.

Main Results:

Keywords:

DCDC2 cholestasis ciliopathy liver transplantation next generation sequencing

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Patients presented with cholestatic jaundice and elevated GGT, typically in early infancy.

Liver biopsies showed cholestasis, fibrosis, and ductular proliferation; one patient developed biliary cirrhosis post-transplant.

Whole exome sequencing identified three DCDC2 variants (one novel), totaling 34 reported patients with DCDC2-related hepatic ciliopathy, predominantly presenting as neonatal sclerosing cholangitis with minimal renal involvement.

Conclusions:

Expands the known spectrum of pathogenic DCDC2 variants.
Clarifies the phenotypic spectrum of DCDC2 gene mutations.
Confirms a loss-of-function mechanism underlies DCDC2-related disease.