Spectrum and frequency of Jagged 1 (ital) (JAG1(ital)) mutations in Alagille syndrome patients and their families

Article Abstract:

The frequency and spectrum of Jagged 1 (ital) (JAG1(ital)) mutations has been studied in Alagille syndrome (AGS) patients and their families. AGS is a dominantly inherited liver disease combined with eye, heart, kidney, face and pancreas abnormalities. Of 54 screened AGS probands and family members, three patients had the entire Jagged1 (ital) (JAG1 (ital)) gene missing, and of the other patients, 69% had mutations in JAG1(ital). The mechanism between the missense mutations and the disease may be something other than haploinsufficiency.

United States, Usage, Liver diseases, Chromosome mapping, Genetic disorders

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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation

Article Abstract:

The screening of cohesin regulator NIPBL-mutation-negative individuals with sporadic and familial Cornelia de Lange syndrome (CdLS) and probands with CdLS-variant phenotypes for mutations in the cohesin complex components SMC3 and SMC1A (structural maintenance of chromosomes 1A) is reported. The analysis has shown that SMC3 and SMC1A mutations result in a consistently mild phenotype with absence of major structural anomalies associated with CdLS.

Mental retardation, Chromosomal proteins, Structure, Report, De Lange syndrome

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NOTCH2 mutations cause alagille syndrome, a heterogeneous disorder of the Notch signaling pathway

Article Abstract:

Around 11 Jagged1 (JAG1) mutation-negative probands with alagille syndrome (AGS) for alterations in the gene for the Notch2 receptor (NOTCH2) is screened to identify the cause of disease in patients without JAG1 mutations. NOTCH2 mutations segregating in two families are found and five affected individuals are identified.

Pennsylvania, Diagnosis, Gene mutations, Gene mutation, Clinical report, Alagille syndrome

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