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Endocrinology, Metabolism and Clinical Nutrition

Vertebral Malformations And Scoliosis

Scoliosis is an abnormal lateral curvature of the vertebral column. Most cases are idiopathic, meaning that no cause for the curvature is known. Idiopathic scoliosis is relatively common, with about 5% of post-pubertal females having curves exceeding 10%. Congenital vertebral malformations are much less common, and cause scoliosis because the vertebral bodies themselves are misshapen. Unlike the case in idiopathic scoliosis, the contributions of several genes to congenital vertebral malformations are known. However, what we know is much less than what remains to be learned.

The Blank lab has a long-standing collaboration with Drs. Phil Giampietro and Cathy Raggio to study the genetic basis of scoliosis and congenital vertebral malformations. Additional key participants in this work include Uli Broeckel and Mike Pickart. The collaborative network is expanding through the International Consortium for Vertebral Anomalies and Scoliosis, established to allow investigators to pool data and expertise world-wide. We have reported linkage of idiopathic scoliosis to chromosome 12p

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Pedigree of an idiopathic scoliosis kindred

and detection of a potentially pathogenic mutation in T, an essential gene for vertebral patterning, in patients with diverse vertebral malformations.

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Missense variant in T found in 3 patients whose X-rays are shown

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C3-C4 Fusion, C4 hypoplasia, multiple thoracic hemivertebrae, multiple rib fusions, multiple missing ribs

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C4-C7 Fusion, T2 hemivertebra, absent right T3 pedicle, butterfly T4 vertebra

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Agenesis of S3-S5 and coccyx