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Coffin-Lowry Syndrome
RKS2 (aka RPS6KA3)
Using genomic DNA obtained from buccal (cheek) swabs or blood (5 cc in EDTA), bi-directional sequence analysis of the 22-exon RSK2 gene is performed. Analysis is offered in two tiers, with the first tier (sequencing of exons 4-7, 9, 11, 14, 17, 18, and 22) expected to identify approximately 70% of the mutations in the gene associated with Coffin-Lowry syndrome and the second tier (analysis of the remaining 11 exons) expected to identify 30% of the mutations. In two studies including over 280 individuals with the clinical features of Coffin-Lowry syndrome, SSCP (combined in one study with cell function assays) identified mutations in about 65% of patients. It is expected that complete bi-directional sequencing of all exons and the intron-exon boundaries of the RSK2 gene (as performed at GeneDx) would have a sensitivity at least as great as either of these two methods. A high rate of de novo mutation has been reported. Mutations occur throughout the coding sequence of the gene and are of all types, including nonsense, missense, splice-site, deletions and insertions. There is no evidence of genotype/phenotype correlation. Mutations resulting in premature protein truncation represent the majority of the mutations. No mutations in the promoter region of the gene have been identified in association with Coffin-Lowry syndrome. There are rare reports of large deletions (involving several exons). Such mutations would be readily identifiable when sequencing a male patient but could be missed when sequencing a female proband. In females without an identifiable mutation by sequencing, focused array CGH analysis with exon-level resolution (ExonArrayDx) is available to evaluate for a deletion or duplication of one or more exons of this gene. Prenatal diagnosis is available once the mutation in a family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Coffin, Lowry, Coffin Lowry, Coffin-Lowry, RSK2, RPS6KA3, X-linked, mental retardation, scoliosis, kyphosis, tapering finger, hearing loss
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