Abstract
Name of the Disease (Synonyms): 1. Progressive familial intrahepatic cholestasis type 2 (PFIC2) 2. Bile salt export pump (BSEP) deficiency 3. Initially reported under the name Byler syndrome. Byler syndrome refers to normal gamma-glutamyltransferase (GGT) level chronic intrahepatic cholestasis observed in children usually during the first year of life1. Later, PFIC1 (Byler disease)2 and PFIC23 were identified. The terms PFIC2 or BSEP deficiency should be used preferentially. OMIM# of the Disease: 601847 Name of the Analysed Genes or DNA/Chromosome Segments: ATP-binding cassette sub-family B or ABCB11 Chromosome 2q24.3 – 2q31.1 (g.169487695-169596079) OMIM# of the Gene(s): 603201 Review of the analytical and clinical validity as well as of the clinical utility of DNA-basedtesting for mutations in the ABCB11 gene in diagnostic, predictive and prenatal settings andfor risk assessment in relatives.
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