Molecular analysis of congenital scoliosis: a candidate gene approach.
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.
Maisenbacher
Melissa K
MK
Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104-4318, USA.
Han
Ji-Soo
JS
O'brien
Megan L
ML
Tracy
Michael R
MR
Erol
Bülent
B
Schaffer
Alyssa A
AA
Dormans
John P
JP
Zackai
Elaine H
EH
Kusumi
Kenro
K
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
C496666:DLL3 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins
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