Zemni et al. (2000) described a female individual with mild intellectual disability and minor autistic features. She had a balanced translocation involving the X chromosome [46,X,t(X;2)(p11.2;p21.3)]. The TSPAN7 gene, formerly known as the TM4SF2 gene, is located at the breakpoint on the X chromosome. TSPAN7 transcripts from this individual were barely detectable when compared with TSPAN7 transcripts from controls. The TSPAN7 gene is expressed in both the fetal and adult brain.
Zemni et al. identified two other mutations in the TSPAN7 gene in two families with XLID. Both mutations were not found in 100 control chromosomes. Males and females can have mild to moderate intellectual disability.
- Zemni et al. (2000). Nat Gen, 24:167-170.
- Maranduba et al. (2004). Am J Med Genet, 124A:413-415.
- OMIM #300096: TSPAN7 gene
- Confirmation of a clinical diagnosis of XLMR 58.
- Carrier testing in adults with a family history of XLMR 58.
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) or ACD (yellow 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 TSPAN7 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.