title: Molecular analysis of congenital scoliosis: a candidate gene approach.
abstract: The etiology of congenital scoliosis is largely unknown. The severe vertebral disorder, spondylocostal dysostosis type 1, is associated with a homozygous delta-like 3 (DLL3) mutation. Scoliosis has been observed in a heterozygous DLL3 carrier, raising the possibility of its involvement in congenital scoliosis. We present the first molecular study of congenital scoliosis by analysis of the candidate gene DLL3 and demonstrate one novel missense variant. However, no novel or previously described mutations are present in our cohort, indicating that DLL3 mutations may not be a major cause of congenital scoliosis. Additionally, we have evaluated patients with congenital scoliosis not diagnosed with a known syndrome and identified a significant number of associated renal and cardiac anomalies and familial incidence of idiopathic scoliosis in this group.
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104-4318, USA.
authors.forename: Melissa K
authors.initials: MK
authors.lastname: Maisenbacher
authors.forename: Ji-Soo
authors.initials: JS
authors.lastname: Han
authors.forename: Megan L
authors.initials: ML
authors.lastname: O'brien
authors.forename: Michael R
authors.initials: MR
authors.lastname: Tracy
authors.forename: Bülent
authors.initials: B
authors.lastname: Erol
authors.forename: Alyssa A
authors.initials: AA
authors.lastname: Schaffer
authors.forename: John P
authors.initials: JP
authors.lastname: Dormans
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Kenro
authors.initials: K
authors.lastname: Kusumi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D015331:Cohort Studies; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D012600:Scoliosis / Q000235:genetics*; D013577:Syndrome
chemical_list: C496666:DLL3 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins
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