Case Reports
doi: 10.1002/ajmg.10616.
Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion
Affiliations
- PMID: 12244554
- DOI: 10.1002/ajmg.10616
Item in Clipboard
Case Reports
Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion
Am J Med Genet.
.
Abstract
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.
Copyright 2002 Wiley-Liss, Inc.
Similar articles
-
Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2).Hum Mutat. 2000 Jul;16(1):92. doi: 10.1002/1098-1004(200007)16:1<92::AID-HUMU23>3.0.CO;2-4. Hum Mutat. 2000. PMID: 10874319
-
Parental mosaicism of JAG1 mutations in families with Alagille syndrome.Eur J Hum Genet. 2001 Mar;9(3):209-16. doi: 10.1038/sj.ejhg.5200613. Eur J Hum Genet. 2001. PMID: 11313761
-
Alagille syndrome and the Jagged1 gene.Semin Liver Dis. 2001 Nov;21(4):525-34. doi: 10.1055/s-2001-19036. Semin Liver Dis. 2001. PMID: 11745040 Review.
-
Mutations in the human Jagged1 gene are responsible for Alagille syndrome.Nat Genet. 1997 Jul;16(3):235-42. doi: 10.1038/ng0797-235. Nat Genet. 1997. PMID: 9207787
-
[From gene to disease: arteriohepatic dysplasia or Alagille syndrome].Ned Tijdschr Geneeskd. 2003 Jun 21;147(25):1213-5. Ned Tijdschr Geneeskd. 2003. PMID: 12848056 Review. Dutch.
Cited by
-
Alagille syndrome: clinical perspectives.Appl Clin Genet. 2016 Jun 30;9:75-82. doi: 10.2147/TACG.S86420. eCollection 2016. Appl Clin Genet. 2016. PMID: 27418850 Free PMC article. Review.
-
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.Hum Mutat. 2009 Mar;30(3):371-8. doi: 10.1002/humu.20863. Hum Mutat. 2009. PMID: 19058200 Free PMC article.
-
Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.Mol Genet Genomic Med. 2020 Jun;8(6):e1086. doi: 10.1002/mgg3.1086. Epub 2020 Apr 11. Mol Genet Genomic Med. 2020. PMID: 32277595 Free PMC article.
-
Consequences of JAG1 mutations.J Med Genet. 2003 Dec;40(12):891-5. doi: 10.1136/jmg.40.12.891. J Med Genet. 2003. PMID: 14684686 Free PMC article.
-
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31343788 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources