American Journal of Medical Genetics · 2002 · 94 citations · 18 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosomal DisordersGenetic DisordersMendelian DisordersMosaicismStructural Chromosome AbnormalitiesAlagille SyndromeChromosomal DeletionsChromosomal MicrodeletionsChromosomal MosaicismChromosome DeletionsChromosome MicrodeletionsGene Deletion SyndromesParental Chromosomal Abnormalities
We report an 18-month-old girl with Alagille syndrome, caused by a submicroscopic deletion of chromosome 20p, including the Jagged1 (JAG1) gene. FISH using a BAC probe containing JAG1 identified the deletion. Chromosomes were normal at the 550 band level. The deletion was inherited from her phenotypically normal mother who was found to have the deletion in 9/20 cells studied from peripheral blood. This is the first report of a JAG1 deletion inherited from an apparently unaffected mosaic parent.
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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
Linheng Li, Ian D. Krantz, Yu Deng et al. · Nature Genetics · 1997 · 1.3K citations
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
Takaya Oda, Abdel Elkahloun, Brian L. Pike et al. · Nature Genetics · 1997 · 1.2K citations