Coffin-Lowry Syndrome (CLS)

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.

Tests Available

Forms and Documents

Test Details

RSK2
  • Confirmation of the clinical diagnosis
  • Carrier testing in female relatives
  • Capillary Sequencing

Ordering

1104
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Delaunoy et al., (2001) Hum Mutat 17:103-116
  2. Delaunoy et al., (2006) Clin Genet 70:161-166
  3. Zeniou et al., (2002) Am J Hum Genet. 70:1421-1433
  4. Hanauer et al., (2002) J Med Genet. 39: 705-713, 2002

Forms and Documents

Test Details

RSK2
  • Confirmation of the clinical diagnosis
  • Carrier testing in female relatives
  • Capillary Sequencing
  • Exon Array CGH

Ordering

550
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Delaunoy et al., (2001) Hum Mutat 17:103-116
  2. Delaunoy et al., (2006) Clin Genet 70:161-166
  3. Zeniou et al., (2002) Am J Hum Genet. 70:1421-1433
  4. Hanauer et al., (2002) J Med Genet. 39: 705-713, 2002

Forms and Documents

Test Details

RSK2
  • Confirmation of the clinical diagnosis
  • Carrier testing in female relatives
  • Capillary Sequencing

Ordering

1102
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Delaunoy et al., (2001) Hum Mutat 17:103-116
  2. Delaunoy et al., (2006) Clin Genet 70:161-166
  3. Zeniou et al., (2002) Am J Hum Genet. 70:1421-1433
  4. Hanauer et al., (2002) J Med Genet. 39: 705-713, 2002

Forms and Documents

Test Details

RSK2
  • Confirmation of the clinical diagnosis
  • Carrier testing in female relatives
  • Capillary Sequencing

Ordering

1101
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Delaunoy et al., (2001) Hum Mutat 17:103-116
  2. Delaunoy et al., (2006) Clin Genet 70:161-166
  3. Zeniou et al., (2002) Am J Hum Genet. 70:1421-1433
  4. Hanauer et al., (2002) J Med Genet. 39: 705-713, 2002