RPL10-Associated Autism Spectrum Disorder: RPL10 Gene Sequencing

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Condition Description

The RPL10 gene (Xq28, previously known as the QM gene) encodes ribosomal protein L10, a highly conserved component of the large subunit of the ribosome that plays an important role in protein synthesis.  It is located at Xq28, which is within a candidate region for autism spectrum disorders (ASD).  Klauck et al. (2006) reported that different missense mutations in the RPL10 gene were identified in two sets of brothers with ASD from two unrelated families.  Both of these mutations were located in exon 7 at the C-terminal end of the gene.

For patients with suspected RPL10-Associated ASD, 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.

References:
  • Klauck et al. (2006)  Mol Psychiatry 11, 1073-1084.

Genes (1)

Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of RPL10-Associated ASD.
  • Carrier testing in adults with a family history of RPL10-Associated ASD.

Methodology

PCR amplification of 6 exons contained in the RPL10 gene is performed on the patient's genomic DNA. Direct sequencing of amplification products is performed in both forward and reverse directions, using automated fluorescence dideoxy sequencing methods. The patient's gene sequences are then compared to a normal reference sequence. Sequence variations are classified as mutations, benign variants unrelated to disease, or variations of unknown clinical significance. Variants of unknown clinical significance may require further studies of the patient and/or family members. This assay does not interrogate the promoter region, deep intronic regions, or other regulatory elements, and does not detect large deletions.

Detection

Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Analytical Sensitivity: ~99%

Specimen Requirements

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.

Type: Saliva

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 RPL10 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.

How to Order