Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene

Wybrich R. Cnossen, Jake S.F. Maurits, Jody Salomon, René H.M. te Morsche, Esmé Waanders, Joost P.H. Drenth

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

2 Citaten (Scopus)


Background: Isolated polycystic liver disease (ADPLD) is an autosomal dominant Mendelian disorder. Heterozygous PRKCSH (where PRKCSH is protein kinase C substrate 80K-H (80 kDa protein, heavy chain; MIM*177060) mutations are the most frequent cause. Routine molecular testing using Sanger sequencing identifies pathogenic variants in the PRKCSH (15%) and SEC63 (where SEC63 is Saccharomyces cerevisiae homolog 63 (MIM*608648); 6%) genes, but about approximately 80% of patients meeting the clinical ADPLD criteria carry no PRKCSH or SEC63 mutation. Cyst tissue often shows somatic deletions with loss of heterozygosity that was recently recognized as a general mechanism in ADPLD. We hypothesized that germline deletions in the PRKCSH gene may be responsible for hepatic cystogenesis in a significant number of mutation-negative ADPLD patients. Methods: In this study, we designed a multiplex ligation-dependent probe amplification (MLPA) assay to screen for deletions of PRKCSH exons. Genomic DNA from 60 patients with an ADPLD phenotype was included. Results: MLPA analysis detected no exon deletions in mutation-negative ADPLD patients. Conclusion: Large copy number variations on germline level are not present in patients with a clinical diagnosis of ADPLD. MLPA analysis of the PRKCSH gene should not be considered as a diagnostic method to explain hepatic cystogenesis.

Originele taal-2Engels
Pagina's (van-tot)431-436
Aantal pagina's6
TijdschriftJournal of Clinical Laboratory Analysis
Nummer van het tijdschrift5
StatusGepubliceerd - 1 sep. 2016
Extern gepubliceerdJa


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