Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1

D. M. Reynolds, C. T. Falk, A. Li, Bernard Francis King, Patrick Sequeira Kamath, John III Huston, C. Shub, D. M. Iglesias, R. S. Martin, Y. Pirson, Vicente Torres, S. Somlo

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Abstract

Polycystic liver disease (PCLD) is characterized by the growth of fluid-filled cysts of biliary epithelial origin in the liver. Although the disease is often asymptomatic, it can, when severe, lead to complications requiring surgical therapy. PCLD is most often associated with autosomal dominant polycystic kidney disease (ADPKD); however, families with an isolated polycystic liver phenotype without kidney involvement have been described. The clinical presentation and histological features of polycystic liver disease in the presence or absence of ADPKD are indistinguishable, raising the possibility that the pathogenetic mechanisms in the diseases are interrelated. We ascertained two large families with polycystic liver disease without kidney cysts and performed a genomewide scan for genetic linkage. A causative gene, PCLD, was mapped to chromosome 19p13.2-13.1, with a maximum LOD score of 10.3. Haplotype analysis refined the PCLD interval to 12.5 cM flanked by D19S586/D19S583 and D19S593/D19S579. The discovery of genetic linkage will facilitate diagnosis and study of this underdiagnosed disease entity. Identification of PCLD will be instrumental to an understanding of the pathogenesis of cyst formation in the liver in isolated PCLD and in ADPKD.

Original languageEnglish (US)
Pages (from-to)1598-1604
Number of pages7
JournalAmerican Journal of Human Genetics
Volume67
Issue number6
DOIs
StatePublished - 2000

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Chromosomes
Autosomal Dominant Polycystic Kidney
Genetic Linkage
Cysts
Liver
Cyst Fluid
Kidney
Polycystic liver disease
Haplotypes
Phenotype
Growth
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. / Reynolds, D. M.; Falk, C. T.; Li, A.; King, Bernard Francis; Kamath, Patrick Sequeira; Huston, John III; Shub, C.; Iglesias, D. M.; Martin, R. S.; Pirson, Y.; Torres, Vicente; Somlo, S.

In: American Journal of Human Genetics, Vol. 67, No. 6, 2000, p. 1598-1604.

Research output: Contribution to journalArticle

Reynolds, D. M. ; Falk, C. T. ; Li, A. ; King, Bernard Francis ; Kamath, Patrick Sequeira ; Huston, John III ; Shub, C. ; Iglesias, D. M. ; Martin, R. S. ; Pirson, Y. ; Torres, Vicente ; Somlo, S. / Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. In: American Journal of Human Genetics. 2000 ; Vol. 67, No. 6. pp. 1598-1604.
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