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Coffin-Lowry Syndrome

  • RKS2 (aka RPS6KA3)
Using genomic DNA obtained from buccal (cheek) swabs or blood (5cc 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. Prenatal diagnosis is available once the mutation in a family has been defined.

Information Sheet, including prices and CPT codes Back to the List
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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