title: Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
abstract: Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with an interstitial deletion of chromosome 17p11.2. SMS is thought to be a contiguous gene syndrome caused by haploinsufficiency of one or more genes in the associated deletion region. To date, no gene has been reported to contribute to the characteristics seen in the SMS phenotype. To expedite the search for the SMS causative genes, we have reduced the SMS critical region to approximately 950kb by analyzing 11 patient samples carrying 17p11.2 deletions. In addition, we have re-evaluated the frequency with which different 17p11.2 deletions naturally occur, showing evidence that homologous recombination likely takes place between low copy repeats at a higher frequency than previously reported.
authors.affiliation: Graduate Program in Genetics, Michigan State University, S-320 Plant Biology Building, 178 Wilson Road, East Lansing, MI 48824, USA.
authors.forename: Christopher N
authors.initials: CN
authors.lastname: Vlangos
authors.forename: Dwight K C
authors.initials: DK
authors.lastname: Yim
authors.forename: Sarah H
authors.initials: SH
authors.lastname: Elsea
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome