Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene
- 7 December 2004
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 132A (3), 278-282
- https://doi.org/10.1002/ajmg.a.30461
Abstract
Smith–Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features, and congenital anomalies usually associated with an interstitial deletion of chromosome 17p11.2. While high quality G‐banding will identify most SMS patients, fluorescent in situ hybridization (FISH) is the recommended test for confirmation of an SMS diagnosis. Recently, haploinsufficiency of the RAI1 gene due to deletion or mutation was determined to be the likely cause of SMS. All diagnostic FISH probes available commercially contain the FLII gene and are approximately 580 kb centromeric to RAI1. We present two patients with SMS who have interstitial deletions at 17p11.2 but are not deleted for currently available commercial FISH probes that include FLII; both patients have deletions that are demonstrated with probes containing the RAI1 gene. We recommend that for diagnostic accuracy, all future FISH tests for SMS be performed with probes containing the RAI1 gene, as some atypical deletions in the region critical to the SMS phenotype will otherwise be missed.Keywords
Funding Information
- NIH (HD38534, 01-HG-0109)
This publication has 18 references indexed in Scilit:
- Genome Architecture Catalyzes Nonrecurrent Chromosomal RearrangementsAmerican Journal of Human Genetics, 2003
- Mutations in RAI1 associated with Smith–Magenis syndromeNature Genetics, 2003
- Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysisEuropean Journal of Human Genetics, 2001
- Circadian rhythm abnormalities of melatonin in Smith-Magenis syndromeJournal of Medical Genetics, 2000
- Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndromeNature Genetics, 1997
- Mutations in the human Jagged1 gene are responsible for Alagille syndromeNature Genetics, 1997
- Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1Nature Genetics, 1997
- The Spasmodic Upper‐body Squeeze: a Chalacteristic Behavior in Smith‐Magenis SyndromeDevelopmental Medicine and Child Neurology, 1994
- Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndromeAmerican Journal of Medical Genetics, 1986
- Interstitial deletion of (17)(p11.2p11.2) in nine patientsAmerican Journal of Medical Genetics, 1986