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
This test is indicated for:
- Confirmation of a clinical/biochemical diagnosis of XLMR 58 in individuals who have tested negative for sequence analysis.
- Carrier testing in adults with a family history of XLMR 58 who have tested negative for sequence analysis.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
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.
- Sequencing analysis of the TSPAN7 gene is available and is required before deletion/duplication analysis.
- Prenatal testing is available to adult females 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.