Angelman-like Syndrome, X-Linked
Patients with mutations in SLC9A6 on the X chromosome have shown clinical features characteristic of Angelman Syndrome such as severe developmental delay, microcephaly, seizures, ataxia, and absent speech.
PrintPatients with mutations in SLC9A6 on the X chromosome have shown clinical features characteristic of Angelman Syndrome such as severe developmental delay, microcephaly, seizures, ataxia, and absent speech.
Genetic analysis of the SCL9A6 gene may be indicated in male patients with an Angelman-like Syndrome phenotype that is not related to chromosome 15q11-13, especially if X-linked inheritance is suspected.
Identification of a SLC9A6 mutation in a patient can help determine carrier status of female relatives and allows for prenatal diagnosis. This test detects 99% of disease causing mutations in the SLC9A6 gene.
Aanalysis of this gene is also available as part of the The Ambry XLMR SuperPANEL™ for X-Linked Intellectual Disabilities.
Mental retardation is one of the primary pediatric referrals, yet its etiology is frequently difficult to establish. The prevalence of mental retardation in developed countries is estimated at 1-3%. X-linked mental retardation (XLMR) affects mostly males at a prevalence of about 1 in 1000. Female carriers often show milder symptoms due to skewed X-chromosome inactivation and other factors.
A recent study has implicated the SLC9A6 gene as a cause of X-linked mental retardation. Patients in this study showed clinical features characteristic of Angelman syndrome such as severe developmental delay, microcephaly, seizures, ataxia, and absent speech, nonetheless, all patients tested negative for 15q11-13 findings. Genetic analysis of the SLC9A6 gene may be indicated in male patients with a non-15q11-13 related Angelman syndrome phenotype, especially if X-linked inheritance is suspected.
Genetic analysis of the SCL9A6 gene may be indicated in male patients with a non-15q11-13 related Angelman syndrome phenotype, especially if X-linked inheritance is suspected. Identification of a SCL9A6 mutation in a patient can help determine carrier status of females in the family and allows for prenatal diagnosis.
This Ambry Test is a gene sequence analysis performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for exons 1-16 of the SLC9A6 gene, plus at least 20 bases into the 5’ and 3’ ends of all the introns. Specific mutation analysis for individual SLC9A6 mutations known to be in the family is also available.
This test detects 99% of disease causing mutations in the SLC9A6 gene.
Blood: Collect 3-5 cc from adult or 2 cc minimum from child into EDTA purple-top tube (first choice) or ACD yellow-top tube (second choice). Store at room temperature or refrigerate. Ship at room temperature.
Saliva: Collect 2 ml into Oragene™ DNA Self-Collection container. Store and ship at room temperature.
DNA: Send 20 μg in TE at 50-100 ng/μl. Store frozen and ship on ice or dry ice.
Prenatal: Prenatal testing is available. Please call an Ambry Genetic Counselor to discuss your case.
| Test Code | Technique | CPT Codes |
|---|---|---|
| 4260 | SLC16A2 Gene Sequence Analysis | 83891x1, 83894x8, 83898x7, 83904x14, 83909x14, 83912x1 |
| Gene sequence or specific mutation analysis |
1 Ropers HH & Hamel BCJ. Nat Rev Genet. 2005;6(1):46-57.
2 Chiurazzi P et al. Eur J Hum Genet. 2008;6:422-434.
3 Gilfillan GD et al. Am J Hum Genet. 2008;82:1003-1010.