Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22.

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis (PFIC ) is the second most common form of familial intrahepatic cholestasis . The genes for PFIC and for a milder form of the disease , benign recurrent intrahepatic cholestasis (BRIC ), were recently mapped to a 19 -cM region on chromosome 18 q 21 -q 22 . The results suggest that PFIC and BRIC are allelic diseases . We have studied 11 Swedish patients from eight families with clinical and biochemical features consistent with PFIC . The families were genotyped for markers D 18 S 69 , D 18 S 64 , D 18 S 55 and D 18 S 68 , spanning the PFIC candidate region . Unexpectedly , the segregation of haplotypes excluded the entire region in three families , and no indications for shared haplotypes were found in the patients of the six remaining families . A four -point linkage analysis of all families excluded linkage from D 18 S 69 to D 18 S 55 (Zmax < -5 ). Thus , our data strongly suggest the presence of a second , yet unknown , locus for PFIC . The results indicate that great care should be taken when using 18 q markers for prenatal diagnosis and genetic counseling for the disease .

Diseases
Validation

Diseases presenting "common form" symptom

achondroplasia

alexander disease

benign recurrent intrahepatic cholestasis

cadasil

child syndrome

classical phenylketonuria

cutaneous mastocytosis

erythropoietic protoporphyria

familial mediterranean fever

hereditary cerebral hemorrhage with amyloidosis

hodgkin lymphoma, classical

holt-oram syndrome

homocystinuria without methylmalonic aciduria

oral submucous fibrosis

pendred syndrome

primary hyperoxaluria type 1

severe combined immunodeficiency

thoracic outlet syndrome

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