ABCB4 p.Tyr328*
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[hide] Presentation of Progressive Familial Intrahepatic ... Pediatr Gastroenterol Hepatol Nutr. 2015 Sep;18(3):202-8. doi: 10.5223/pghn.2015.18.3.202. Epub 2015 Sep 25. Boga S, Jain D, Schilsky ML
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.
Pediatr Gastroenterol Hepatol Nutr. 2015 Sep;18(3):202-8. doi: 10.5223/pghn.2015.18.3.202. Epub 2015 Sep 25., [PMID:26473142]
Abstract [show]
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4 located on chromosome 7. Here we report on an older patient, aged 15, who presented with biochemical testing that led to an initial consideration of a diagnosis of Wilson disease (WD) resulting in a delayed diagnosis of PFIC3. Diagnosis of PFIC3 was later confirmed by molecular studies that identified novel mutations in the ABCB4 gene. Cholestasis due to PFIC3 can cause elevated hepatic copper and increased urine copper excretion that overlap with current diagnostic criteria for WD. Molecular diagnostics are very useful for establishing the diagnosis of PFIC3. Ursodeoxycholic acid ameliorates cholestasis in PFIC3, and may help mediate a reduction in hepatic copper content in response to treatment.
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No. Sentence Comment
49 The patient was found to have compound heterozygosity for novel mutations in the ABCB4 gene and had inherited one mutation from each parent (father: c.984T&#ff1e;G [p.Y328*], mother: c.3218G &#ff1e;A [p.C1073Y]), consistent with a diagnosis of PFIC3.
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ABCB4 p.Tyr328* 26473142:49:167
status: NEW90 One of the mutations, c.984T &#ff1e;G (p.Y328*), has not been previously reported in the literature.
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ABCB4 p.Tyr328* 26473142:90:41
status: NEW91 This is predicted to be a nonsense mutation that results in a premature stop codon (p.Y328*) and thus is categorized as a deleterious mutation.
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ABCB4 p.Tyr328* 26473142:91:86
status: NEW