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Updated: Mar 19, 2026

Isolation of Neonatal Extrahepatic Cholangiocytes

Isolation of Neonatal Extrahepatic Cholangiocytes

Published on: June 5, 2014

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Muriel Girard^1,2,3, Albane A Bizet^4,5, Alain Lachaux^6,7

¹Hepatology Unit, Necker Hospital, Assistance Publique-Hopitaux de Paris, France. muriel.girard@aphp.fr.

|June 21, 2016

Summary

This summary is machine-generated.

Mutations in the DCDC2 gene cause neonatal sclerosing cholangitis (NSC), a rare liver disease. This finding identifies NSC as a ciliopathy and expands the known DCDC2 mutation spectrum.

Keywords:

DCDC2 biliary cirrhosis ciliopathy, doublecortin domain hyperechogenic kidney neonatal sclerosing cholangitis

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Area of Science:

Genetics
Hepatology
Cell Biology

Background:

Neonatal sclerosing cholangitis (NSC) is a rare pediatric liver disease often requiring transplantation.
The molecular basis for most NSC cases remains unknown.
Previous research linked CLDN1 mutations to NSC in patients with ichthyosis.

Purpose of the Study:

To investigate the genetic cause of NSC in patients without known mutations.
To characterize the function of DCDC2 in cholangiocytes.
To expand the understanding of NSC's molecular etiology and DCDC2-related disorders.

Main Methods:

Genetic analysis (whole-exome sequencing or targeted gene sequencing) to identify mutations.
In vitro studies using cholangiocytes to assess DCDC2 protein localization and function.
Analysis of DCDC2 protein in patient-derived cells.

Main Results:

Biallelic mutations (missense or in-frame deletion) in the DCDC2 gene were identified in four children with NSC.
These mutations affect highly conserved amino acids within the doublecortin domains of DCDC2.
Mutated DCDC2 protein accumulates in the cytoplasm, is absent from cilia, and disrupts ciliogenesis in cholangiocytes.

Conclusions:

Mutations in DCDC2 are a novel cause of neonatal sclerosing cholangitis.
NSC can be classified as a ciliopathy based on these findings.
This study broadens the clinical spectrum associated with DCDC2 mutations, previously linked to dyslexia, deafness, and nephronophthisis.