Chondrodysplasia Punctata (CDPX1)

X-linked recessive chondrodysplasia punctata (CDPX1) is characterized by abnormal cartilage and bone development, including nasomaxillary hypoplasia, absence of the anterior nasal spine, hypoplasia of distal phalanges (brachytelephalangy), stippled epiphyses on X-ray (chondrodysplasia punctata) especially in the hands and feet, hearing loss and short stature. CDPX1 has variable expression. Less severely affected individuals have normal intellect, minimal morbidity and may achieve normal stature in adulthood. More severe cases may involve marked nasal hypoplasia requiring choanal stents, punctate calcifications involving the tracheobronchial tree and leading to airway complications, as well as abnormal ossification of the cervical vertebrae resulting in cervical spine stenosis and instability, requiring close follow-up, surgical interventions and early lethality in some cases. Cardiac defects, mental retardation and seizure disorders have also been described.

Tests Available

Forms and Documents

Test Details

ARSE
  • Confirmation of a clinical diagnosis
  • Carrier testing in female relatives
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

282
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 756.59 Chondrodysplasia punctata epiphysealis
* For price inquiries please email zebras@genedx.com

References

  1. Brunetti-Pierri, N. et al. (2003) X-Linked Recessive Chondrodysplasia Punctata: Spectrum of Arylsulfatase E Gene Mutations and Expanded Clinical Variability Am J Med Genet 117A:164-168
  2. Sheffield, L.J. et al. (1998) Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chodrodysplasia punctata J Med Genet 35:1004-1008
  3. Franco B. et al. (1995) A Cluster of Sulfatase Genes on Xp22.3: Mutations in Chondrodysplasia Punctata(CDPX) and Implications for Warafin Embryopathy Cell 81:15-25.

Forms and Documents

Test Details

ARSE
  • Confirmation of a clinical diagnosis
  • Carrier testing in female relatives
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing
  • Exon Array CGH

Ordering

282E
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 756.59 Chondrodysplasia punctata epiphysealis
* For price inquiries please email zebras@genedx.com

References

  1. Brunetti-Pierri, N. et al. (2003) X-Linked Recessive Chondrodysplasia Punctata: Spectrum of Arylsulfatase E Gene Mutations and Expanded Clinical Variability Am J Med Genet 117A:164-168
  2. Sheffield, L.J. et al. (1998) Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chodrodysplasia punctata J Med Genet 35:1004-1008
  3. Franco B. et al. (1995) A Cluster of Sulfatase Genes on Xp22.3: Mutations in Chondrodysplasia Punctata(CDPX) and Implications for Warafin Embryopathy Cell 81:15-25.

Forms and Documents

Test Details

ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, FLG, GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30), KRT1, KRT10, KRT2, KRT9, LIPN, LOR, NIPAL4(Ichthyin), PEX7, PHGDH, PHYH, PNPLA1, PNPLA2, POMP, PSAT1, SDR9C7, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24
  • Identification of the specific molecular basis of congential ichthyosis or related skin disorders
  • Genetic counseling and recurrence risk assessment
  • Option for prenatal testing in future pregnancies

As needed, based on the referring diagnosis and coverage achieved by the XomeDxSlice-Ichthyosis for a given patient, critical exons with a high yield of mutations will be filled-in by dideoxy sequencing. For any autosomal recessive gene, if one definitive mutation is found by XomeDxSlice sequencing, AND the gene fits the type of ichthyosis reported by the referring physician, capillary sequencing will be used to fill in sequence for exons that are not sufficiently covered (>10X) to find the second mutation. If no second mutation is found by sequencing, deletion/duplication analysis of that gene can be performed at no additional cost can be performed at no additional cost.

Patient samples sent for XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.\\\"

  • Next-Gen Sequencing

Ordering

708
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81252x1, 81254x1, 81479x11
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

AGPS, ARSE, COL1A1, COL1A2, COL2A1, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR2, FGFR3, FLNB, GNPAT, IFITM5, LEPRE1, NEK1, PEX7, PPIB, SLC26A2, SOX9, TRIP11
  • Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a skeletal dysplasia
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Distinguish between causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing

Ordering

949
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|4 Ug DNA Concentration

Billing

81404x2, 81408x2, 81265x1, 81479x2
Yes
No
* For price inquiries please email zebras@genedx.com

References

  1. Barkova, E et. al. (2014). Clinical Genetics,doi:10.1111/cge.12434 [doi]
  2. Nelson, DB et. al. (2014). Journal of Ultrasound in Medicine 33(6), 1085-1090.
  3. Noel, AE & Brown RN (2014). International Journal of Women\\\\\\\'s Health, 6, 489-500.
  4. Dighe, M, et. al. (2008). Radiographics 28(4), 1061-1077.
  5. Hatzaki, A et. al. (2011). American Journal of Medical Genetics, 155A(10), 2426-2435.
  6. Witters, I, Moerman, P & Fryns, JP (2008). Genetic Counseling (Geneva, Switzerland), 19(3), 267-275.
  7. Stratbucker, WB (2009). Pediatrics in Review, 30(3), 114-115.
  8. Valadares, ER, et. al (2014). Jornal De Pediatria, 90(6), 536-541.
  9. Krakow, D, et. al., (2009). Genetics in Medicine 11(2), 127-133.
  10. http://www.omim.org/entry/200600
  11. Mansour et al., (1995) J Med Genet 32:415-420.
  12. Mansour et al., (2002) J Med Genet 39:597-602.
  13. Pop et al. (2005) Hum Genet 117:43-53.
  14. Moog et al., (2001) Am J Med Genet 104:239-245.
  15. Pop et al., (2004) J Med Genet 41:e47.
  16. Meyer et al., (1997) Hum Mol Genet 6(1):91-98
  17. Braverman, N, Moser, A and Steinberg, S. (Updated September 13, 2012). Rhizomelic Chondrodysplasia Punctata Type 1. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-20
  18. Gunay-Aygun, M, Gahl,W, and Heller,T (Updated April 24, 2014). Congenital Hepatic Fibrosis Overview. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2015. Available a
  19. Peraita-Ezcurra M, et al. (2012) Gene. May 10;499(1):223-5.
  20. Baujat G, et al. (2007) Orphanet J Rare Dis. Jun 4;2:27.