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GeneDx, RSK2 (RPS6KA3) Select Exons Sequencing
MessageCollect at NMCP only Mon-Thursday by 1200
Test Code
1101
Alias/See Also
Coffin-Lowry Syndrome (CLS)
CPT Codes
81479x1
Preferred Specimen
2-5 mL Blood - Lavender Top Tube
Instructions
Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for 7 days prior to shipping.
Transport Temperature
Ambient
Methodology
Capillary Sequencing
Report Available
6-8 weeks
Clinical Significance
This X-linked form of mental retardation is characterized by typical facial features (progressive development of coarse facies with prominent chin and ears and heavy brow; down-slanting palpebral fissures and epicanthal folds, broad nose with thick alae nasi, septum and anteverted nares; large open mouth with full lips, hypodontia and other dental and bite anomalies, narrow high palate). A consistent feature is the large, puffy, soft hands with tapering fingers distally, small fingernails and full forearms. Skeletal anomalies include kyphoscoliosis, lordosis, and pectus carinatum or excavatum. Patients are usually short with delayed bone age; joints are hyperextensible. The cognitive function of affected males is usually severely impaired. Patients are hypotonic and may have “drop attacks”. Sensorineural hearing loss has been described. Complications resulting in early death include spinal stenosis leading to neurologic symptoms, and progressive kyphoscoliosis leading to impaired cardiorespiratory function. Heterozygous females may exhibit mild to severe features of the disorder. Inheritance pattern: X-linked recessive; most cases are sporadic.
