Kids First: Pediatric Research Project on Adolescent Idiopathic Scoliosis

Both childhood cancers and structural birth defects are critical and costly conditions associated with substantial morbidity and mortality. Elucidating the underlying genetic etiology of these diseases has the potential to profoundly improve preventative measures, diagnostics, and therapeutic interventions. For the current study, families with inherited adolescent idiopathic scoliosis were included. Both affected and unaffected family members were included.]]>
Subjects included in this study are children treated for Idiopathic Scoliosis (IS) with curves measuring at or above 20 degrees and their similarly affected and unaffected family members. All ages were included. No particular race, ethnic group, or gender is targeted or excluded from this research. Participants should be able to speak and read English or Spanish. Participants should have the ability to give informed consent. Exclusion criteria include subjects with co-existing diagnoses that may be suggestive non-idiopathic disease.]]>
Adolescent idiopathic scoliosis is a genetically complex spine deformity. Genome-wide association studies have identified a limited number of risk loci that collectively represent a small fraction of the variation underlying disease risk. We have systematically collected families segregating Mendelian AIS. Probands and family members were ascertained through surgeons in pediatric orthopaedic clinics, mostly at Texas Scottish Rite Hospital for Children, a tertiary facility specializing in musculoskeletal developmental disorders. Other affected family members were diagnosed from medical history and standing radiographs of the spine. Most families were previously genotyped on high density SNP arrays and were negative for large segregating segmental or chromosomal anomalies.]]>