Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families

Background/Aims: Polycystic liver disease (PCLD), a dominantly inherited condition separate from polycystic kidney disease (PKD), has recently been found to be linked to a locus on chromosome 19p13.2-13.1 in two North American families. Our aim was to study whether there is clinical or genetic heter...

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Bibliographic Details
Published in:Journal of hepatology 2003, Vol.38 (1), p.39-43
Main Authors: Tahvanainen, Pia, Tahvanainen, Esa, Reijonen, Hanna, Halme, Leena, Kääriäinen, Helena, Höckerstedt, Krister
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 19 - genetics
Cysts - diagnostic imaging
Cysts - genetics
Cysts - physiopathology
Cysts - surgery
Decompression, Surgical
Female
Finland
Gastroenterology. Liver. Pancreas. Abdomen
Genetic Linkage
Genetic Variation
Humans
Linkage
Liver Diseases - diagnostic imaging
Liver Diseases - genetics
Liver Diseases - physiopathology
Liver Diseases - surgery
Male
Medical sciences
Pedigree
Polycystic liver disease
Severity of Illness Index
Ultrasonography
Ultrasound
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Summary:Background/Aims: Polycystic liver disease (PCLD), a dominantly inherited condition separate from polycystic kidney disease (PKD), has recently been found to be linked to a locus on chromosome 19p13.2-13.1 in two North American families. Our aim was to study whether there is clinical or genetic heterogeneity within PCLD families. Methods: We collected clinical data of eight Finnish PCLD families and performed both linkage analysis and an extended admixture test. We used genetic markers located on chromosome 19p13.2-13.1 and, in addition, on the three known PKD loci on chromosomes 4q21-q23 ( PKD2), 6p21 ( ARPKD) and 16p13.3-p13.12 ( PKD1). Results: There were a total of 33 PCLD patients among which the severity of the disease varied greatly even within families. Seven patients had disabling symptoms requiring cyst decompression while ten patients were found only when the symptomless family members were studied by abdominal ultrasound. When genetic homogeneity was assumed, the PCLD locus on chromosome 19p13.2-13.1 was excluded but when genetic heterogeneity was allowed, five families out of seven showed linkage to that locus. All three PKD loci were excluded. Conclusions: Most Finnish PCLD families are linked to chromosome 19p13.2-13.1 but there exists also a second PCLD locus yet to be found.
ISSN:0168-8278
1600-0641
DOI:10.1016/S0168-8278(02)00348-3