PTEN associated Macrocephaly/Autism Syndrome

Autism spectrum disorders (ASDs) are a group of severe neurodevelopmental disorders, in which patients show deficits in social interaction, impaired communication, repetitive behavior and restricted interests and activities. The prevalence of ASDs is rising, and it is estimated that 60 per 10,000 individuals currently have a form of ASD and 13 per 10,000 individuals have autism. ASDs include several clinically defined conditions, of which pervasive developmental disorder (not otherwise specified) and autistic disorder (‘classic’ autism) are the most common. Autism often appears to be associated with either macrocephaly or microcephaly. It is reported that 83% of patients with autism have a head circumference greater than the 50th percentile, and 24% have a head circumference above the 98th percentile. Mutations in the PTEN gene have been reported in a subgroup of patients with ASD who had significant macrocephaly with a head circumferences ranging from +2.5 to +8 SD for age and sex. Most but not all patients also had dysmorphic features, such as broad forehead, hypertelorism, midface hypoplasia, depressed nasal bridge, long philtrum and short nose. However, typical clinical features of Cowden syndrome (CS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS) were usually lacking.

Tests Available

Forms and Documents

Test Details

PTEN
  • An adult with features of PTEN hamartoma tumor syndrome (PHTS), such as characteristic skin lesions (trichilemmomas, acral keratoses, papillomas, lipomas, etc.), macrocephaly, gastrointestinal polyps (especially hamartomas or ganglioneuromas), Lhermitte-Duclos disease, or associated cancers (breast, endometrial, non-medullary thyroid, renal, melanoma, colon), among other features
  • A child with early-onset features of PHTS, such as macrocephaly, autism, developmental delay, lipomas, penile freckling, or vascular anomalies, among other features
  • An unaffected individual with a family history suggestive of PHTS (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

195
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81321x1, 81323x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Eng, C. Hum Mutat. 22: 183-98, 2003
  2. Marsh, D.J. et al. Hum Mol Genet. 7: 507-15, 1998
  3. Zhou, X.P. et al. Am J Hum Genet. 73: 404-11, 2003
  4. Pezzolesi, M. et al. Hum Mol Genet. 16: 1058-71, 2007
  5. Zhou, X.P. et al. Hum Mol Genet. 9: 765-8, 2000
  6. Zhou, X.P. et al. Lancet. 358: 210-1, 2001
  7. Barker, K. et al. J Med Genet. 38: 480-1, 2001
  8. Smith, J.M. et al., J Med Genet. 39: 937-40, 2002

Forms and Documents

Test Details

AKT3, BRWD3, CCND2, CHD8, CUL4B, DNMT3A, EZH2, GLI3, GPC3, HEPACAM, HERC1, MED12, MTOR, NFIA, NFIX, NSD1, OFD1, PHF6, PIK3CA, PIK3R2, PPP2R5D, PTCH1, PTEN, RAB39B, RNF135, SETD2, SNX14, TBC1D7, UPF3B
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

699
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81321x1, 81323x1, 81401x1, 81405x1, 81406x1
No
Yes
* For price inquiries please email zebras@genedx.com