European Journal of Human Genetics - Clinical utility gene card for: Alagille Syndrome (ALGS)

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European Journal of Human Genetics - Clinical utility gene card for: Alagille Syndrome (ALGS)

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 24 July 2013; doi: 10.1038/ejhg.2013.140

Clinical utility gene card for: Alagille Syndrome (ALGS)

Laura D Leonard¹, Grace Chao¹, Alastair Baker², Kathleen Loomes³ and Nancy B Spinner¹

1. ¹Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA
2. ²Paediatric Liver Centre, King’s Health Partners, King's College Hospital, London, UK
3. ³Division of Gastroenterology, Department of Pediatrics, Children's Hospital of Philadelphia, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA

Correspondence: Dr NB Spinner, Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, The University of Pennsylvania, 1007A Abramson Research Building, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA. Tel: +1 215 590 4177; Fax: +1 215 590 3850; E-mail: Spinner@mail.med.upenn.edu

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1. Disease characteristics

1.1 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}

1.2 OMIM# of the disease

ALGS1: 118450; ALGS2: 610205.

1.3 Name of the analysed genes or DNA/chromosome segments

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

1.4 OMIM# of the gene(s)

JAG1 (601920); NOTCH2 (600275).

1.5 Mutational spectrum

JAG1 mutations are identified in roughly 94% of patients with clinically diagnosed Alagille syndrome (ALGS) and NOTCH2 mutations are identified in about 1.5% of patients with clinically diagnosed ALGS. The distribution of mutation types is shown below for JAG1 (Figure 1) and NOTCH2 (Figure 2).^{5, 6, 7}