Secondary, somatic mutations might promote cyst formation in patients with autosomal-dominant polycystic liver disease

Janssen Manoe

PCLD is a rare autosomal dominant disorder in which the abnormal development of bile duct epithelial cells leads to the formation of many fluid-filled liver-cysts. For a long time it was unclear how the dominant inheritance and heterozygous mutations in PRKCS Hand SEC63 related to cyst formation. By specifically isolating DNA from cyst epithelial cells researchers in the department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, could show that, in patients with a PRKCSH mutation, over 76% of the cyst had lost the remaining wild type allele through loss of heterozygosity (LOH). Although the functional link between PRKCS Hand the development of PCLD is not yet known, the high percentage of somatic second hit mutations indicates that loss of functional PRKCSH is an important step in liver cyst formation.


Gastroenterology. 2011 Aug 18.

Secondary, Somatic Mutations Might Promote Cyst Formation in Patients with Autosomal-Dominant Polycystic Liver Disease.

Janssen MJ, Waanders E, Te Morsche RH, Xing R, Dijkman HB, Woudenberg J, Drenth JP

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