Filges et al. (2011) reports a family in which two brothers have XLID. An approximate 200kb deletion containing the PTCHD1 (Xp22.11) gene only was identified in the brothers and their clinically unaffected mother. Additional males with disruption or mutation of the PTCHD1 gene have been identified. Affected males have moderate to severe ID. Additional features reported include hypotonia, autistic features, and transient ataxic movement; however, as none of these features are found consistently in individuals with a mutation in the PTCHD1 gene, it is thought that expressivity is variable. The PTCHD1 gene is expressed in the human brain with preferential expression in the temporal lobe, cortex, and cerebellum.
Please note that the PTCHD1 gene is not currently part of our XLID 90+ gene panel.
For patients with suspected PTCHD1-related XLID, sequence analysis is recommended as the first step in mutation identification. For patients in whom mutations are not identified by full gene sequencing, deletion/duplication analysis is appropriate.
- Confirmation of a clinical diagnosis of PTCHD1-related XLID in an individual in whom sequence analysis was negative.
- Carrier testing in adults with a family history of PTCHD1-related XLID in whom sequence analysis was negative.
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) 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.
- Sequence analysis of the PTCHD1 gene is available and is required before deletion/duplication analysis.
- 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.