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 "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

You can validate or delete this automatically detected symptom