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. 2016 Oct;37(10):1025-9.
doi: 10.1002/humu.23031. Epub 2016 Aug 24.

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

Muriel Girard  1   2   3 , Albane A Bizet  4   5 , Alain Lachaux  6   7 , Emmanuel Gonzales  8   9 , Emilie Filhol  4   5 , Sophie Collardeau-Frachon  7   10 , Cécile Jeanpierre  4   5 , Charline Henry  4   5 , Monique Fabre  11 , Loic Viremouneix  7   12 , Louise Galmiche  11 , Dominique Debray  13 , Christine Bole-Feysot  14 , Patrick Nitschke  15 , Danièle Pariente  9   16 , Catherine Guettier  9   17 , Stanislas Lyonnet  4   18 , Laurence Heidet  4   5 , Aurelia Bertholet  7   19 , Emmanuel Jacquemin  8   9 , Alexandra Henrion-Caude  4 , Sophie Saunier  4   5
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DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

Muriel Girard et al. Hum Mutat. 2016 Oct.

Abstract

Neonatal sclerosing cholangitis (NSC) is a rare biliary disease leading to liver transplantation in childhood. Patients with NSC and ichtyosis have already been identified with a CLDN1 mutation, encoding a tight-junction protein. However, for the majority of patients, the molecular basis of NSC remains unknown. We identified biallelic missense mutations or in-frame deletion in DCDC2 in four affected children. Mutations involve highly conserved amino acids in the doublecortin domains of the protein. In cholangiocytes, DCDC2 protein is normally located in the cytoplasm and cilia, whereas in patients the mutated protein is accumulated in the cytoplasm, absent from cilia, and associated with ciliogenesis defect. This is the first report of DCDC2 mutations in NSC. This data expands the molecular spectrum of NSC, that can be considered as a ciliopathy and also expands the clinical spectrum of the DCDC2 mutations, previously reported in dyslexia, deafness, and nephronophtisis.

Keywords: DCDC2; biliary cirrhosis; ciliopathy, doublecortin domain; hyperechogenic kidney; neonatal sclerosing cholangitis.

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