The SLC9A6 gene encodes the Na+/H+ exchanger protein NHE6. NHE6 is a membrane protein found in early recycling endosomal membranes and transiently associates with the plasma membrane. It is believed to have a role in regulating the lumen pH, and a consequence of NHE6 inactivity could be lowered endosomal pH and decreased monovalent ion content, both of which might affect protein folding and trafficking. The disruption in recycling endosome trafficking is likely to disturb the growth of dendritic spines during long-term potentiation, which is the process involved in memory and learning. Abnormalities in synaptic development and plasticity have also been shown to be involved in the pathogenesis of Angelman syndrome; UB3A is involved in the intracellular protein-processing apparatus at the level of protein ubiquination.
(Taken from Gilfillan, G. et al. SLC9A6 Mutaitons Cause X-Linked Mental Retardation, Microcephaly, Epliepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. Am J Hum Gen 82:1003-1010, 2008.
For patients with mutations not identified by full gene sequencing, a separate deletion/duplication assay is available using a targeted CGH array (PN).
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.
- SLC9A6 Gene Deletion/Duplication (PN) is available for those individuals in whom sequence analysis is negative.
- X-Linked Intellectual Disability panels are available for 30, 60, and 90+ genes.
- Prader-Willi/Angelman Methylation Studies (PW).
- Rett Syndrome Sequencing of Methyl CpG-Binding Protein (MECP2) Gene (SR).
- X-Linked Mental Retardation Deletion/Duplication Array CGH (OL)