Articles in 2013

Name of the disease (synonyms)

Alagille syndrome (ALGS); Alagille syndrome 1 (ALGS1); Alagille syndrome 2 (ALGS2). Other synonyms include Alagille–Watson Syndrome (AWS); cholestasis with peripheral pulmonary stenosis; arteriohepatic dysplasia (AHD); hepatic ductular hypoplasia, syndrome; Miller–Watson syndrome.^{1, 2, 3, 4}

OMIM# of the disease

ALGS1: 118450; ALGS2: 610205

Analysed genes or DNA/chromosome segments

JAG1 (Jagged1 gene; locus 20p12.2; disease ALGS1); NOTCH2 (Notch2 gene; locus 1p12-p11; disease ALGS2).

OMIM# of the gene(s)

JAG1 (601920); NOTCH2 (600275).

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the JAG1 and NOTCH2 genes in diagnostic, predictive and prenatal settings and for risk assessment in relatives.