Parental mosaicism of JAG1 mutations in families with Alagille syndrome
| Autor: | David J. Amor, Ingo Hansmann, Joannis Giannakudis, Albrecht Röpke, Jean-Pierre Fryns, Mike Schlicker, Agnes Bankier, Annegret Kujat, Małgorzata Krajewska-Walasek, Helen E. Hughes |
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| Rok vydání: | 2001 |
| Předmět: |
Male
JAG1 Biology medicine.disease_cause Variable Expression Alagille syndrome Genetics medicine Humans Serrate-Jagged Proteins Genetics (clinical) DNA Primers Mutation Base Sequence Mosaicism Calcium-Binding Proteins Membrane Proteins Proteins Autosomal dominant trait medicine.disease Penetrance Pedigree Alagille Syndrome Phenotype Intercellular Signaling Peptides and Proteins Jagged-1 Protein Female Congenital disorder |
| Zdroj: | European Journal of Human Genetics. 9:209-216 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/sj.ejhg.5200613 |
| Popis: | The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in association with a typical face, is an autosomal dominant disease with nearly complete penetrance and variable expression. AGS is caused by mutations in the developmentally important JAG1 gene. In our mutation screening, where 61 mutations in JAG1 were detected, we identified five cases where mosaicism is present. Our results point to a significant frequency of mosaicism for JAG1 mutations in AGS of more than 8.2%. Because mosaicism may be associated with a very mild phenotype, the appropriate diagnosis of AGS and consequently the determination of the recurrence risk can be complicated. |
| Databáze: | OpenAIRE |
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