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 "however" symptom

adrenal incidentaloma

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cushing syndrome

dedifferentiated liposarcoma

dracunculiasis

dystrophic epidermolysis bullosa

esophageal carcinoma

focal myositis

heparin-induced thrombocytopenia

hodgkin lymphoma, classical

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

omenn syndrome

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

sneddon syndrome

thoracic outlet syndrome

von hippel-lindau disease

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

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