Stocco Dos Santos XLMR Syndrome: SHROOM4 Gene Sequencing

A mutation in the SHROOM4 gene (Xp11.2) has been reported in a Brazilian family in which males had severe intellectual disability, bilateral congenital hip luxation and short stature.   The SHROOM4 gene was also found to be disrupted in two unrelated females with mild to moderate intellectual disabilities.  Other features included delayed or no speech, seizures, kyphosis and hyperactivity.  Carrier females displayed seizures and depression.  No mutations in SHROOM4 were identified in more than 1000 control X chromosomes.  

For patients with suspected Stocco Dos Santos X-linked mental retardation syndrome, 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:

• OMIM #300434:  Stocco Dos Santos X-Linked Mental Retardation Syndrome. 
  
• OMIM #300579:  Shrrom Family Member 4. 
  

This test is indicated for:

• Confirmation of a clinical diagnosis of Stocco Dos Santos X-linked mental retardation syndrome.
• Carrier testing in adults with a family history of Stocco Dos Santos X-linked mental retardation syndrome.

PCR amplification of 9 exons contained in the SHROOM4 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.

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.

Type: Saliva

Specimen Requirements:

Oragene^TM 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 SHROOM4 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.

Requisition Forms

• Comprehensive Molecular Test Requisition Form
• Autism/Intellectual Disability/Developmental Delays Test Requisition Form

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