DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.

ABSTRACT:

Introduction

The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from three unrelated families) with DCDC2 biallelic pathogenic variants. A detailed overview of the reported patients with DCDC2-related disease was provided.

Material and methods

A retrospective chart review of the clinical, biochemical, pathological (liver histology) and molecular features of the study group was performed. The database PubMed (MEDLINE) was searched for relevant studies.

Results

All the patients presented with cholestatic jaundice and elevated GGT; the mean age was 2 months. The initial liver

SUBMITTER: Lipinski P 

PROVIDER: S-EPMC10252754 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature