ANGELMAN SYNDROME SEQUENCING
Angelman syndrome is a neurodevelopmental disorder characterized by severe motor and mental retardation, microcephaly, ataxia, jerky limb movements such as hand flapping, hyperactivity, seizures, absence of speech, frequent smiling and outbursts of laughter, and unusual facial features, characterized by a large mouth and jaw, an open-mouthed expression, with a great propensity for protruding the tongue.
Angelman syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. Other causes include uniparental disomy, translocation, or single gene mutation in that region.
Research has shown a mutation of the UBE3A gene can lead to Angelman syndrome. The UBE3A gene is part of the ubiquitin pathway which is present on both the maternal and paternal chromosomes, but differs in the pattern of methylation. The paternal silencing of the UBE3A gene occurs in a brain region-specific manner; in the hippocampus and cerebellum, the maternal allele is almost exclusively the active one. The most common genetic defect leading to Angelman syndrome is a ~4Mb (mega base) maternal deletion in chromosomal region 15q11-13 causing an absence of UBE3A expression in the paternally imprinted brain regions
Methodology: Sequencing of entire coding region of the UBE3A gene
Deletion/Duplication analysis is also available for this gene.
Purpose: Confirmation of Clinical Diagnosis
Detection Frequency: ~99%
Turn-Around-Time: 5 weeks
Specimen Requirements: 2-5 ml Blood- EDTA tube (Lavender Top)
For Buccal Swab or Saliva samples please contact the lab to obtain a collection kit.
OUHSC Genetics Laboratory 1122 NE 13th Street, Suite 1400, Oklahoma City, OK 73104
Phone (405)271-3589 Fax (405)271-7117 After hours phone (405)496-9514
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