Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis.

[benign recurrent intrahepatic cholestasis]

Benign recurrent intrahepatic cholestasis (BRIC ) is a rare inherited liver disease characterized by recurrent attacks of severe cholestasis with no progression to end stage liver disease . Patients have jaundice , however , serum gamma-glutamyltransferase and cholesterol levels remain within the normal range during the attacks . Three mutations in the familial intrahepatic cholestasis 1 (ATP 8 B 1 ) gene encoding a P-type ATPase have been reported so far in patients with the autosomal recessive form of BRIC . A novel rare type insertion-deletion mutation , also called indel , was found in exon 24 of ATP 8 B 1 in our patient together with a known missense mutation 1982 T >C in exon 17 . The mechanism of the indel formation is proposed and impact of the indel mutation on the function of ATP 8 B 1 protein is discussed .

Diseases
Validation

Diseases presenting "jaundice" symptom

alpha-thalassemia

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

cholangiocarcinoma

congenital toxoplasmosis

erythropoietic protoporphyria

esophageal carcinoma

homocystinuria without methylmalonic aciduria

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

oculocutaneous albinism

phenylketonuria

scrub typhus

typhoid

von hippel-lindau disease

This symptom has already been validated