Mutations in the PAK3 gene have been identified in five families with XLID. Three of the mutations are missense mutations (Bienvenu et al. 2000; Gedeon et al. 2003; Peippo et al. 2007), one is a nonsense mutation (Allen et al. 1998), and one is a splice-site mutation (Rejeb et al. 2008). Common features seen in affected males for these five families include microcephaly, oral motor dysfunction with persistent drooling and inarticulate speech, and behavioral and psychiatric symptoms. Female carriers are often asymptomatic; however, they could show borderline to mild intellectual disability.
• OMIM #300558: XLMR 30
• OMIM #300142: PAK3 gene
• Rejeb et al. (2008) Eur J Hum Genet, 16:1358-1363.
• Bienvenu et al. (2000) Am J Med Genet, 93:294-298.
• Gedeon et al. (2003) Am J Med Genet A, 120:509-517.
• Peippo et al. (2007) Am J Med Genet A, 143:2406-2416.
• Allen et al. (1998) Nat Genet, 20:25-30.
This test is indicated for:
- Confirmation of a clinical diagnosis of XLMR 30.
- Carrier testing in adults with a family history of XLMR 30.
Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's biochemical phenotype.
Analytical Sensitivity: ~99%
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Deletion/duplication analysis of the PAK3 gene by CGH array is available for those individuals in whom sequence analysis is negative.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.
- X-Linked Intellectual Disability panels are available for 30, 60, and 90 genes.