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• W3165393689 abstract "Idiopathic scoliosis (IS) is an abnormality of the vertebral column with a spine curvature of at least 10 degrees. It is the most common spinal deformity in children with a prevalence of 2%–3%, and its aetiology is unknown. Genetic factors are known to play a role and a number of linkage analyses showed associations of various loci. Here we describe a new case of a de novo interstitial deletion 8q11.21q11.2 disrupting SNTG1 gene, identified by array-CGH in a girl with cognitive impairment and a scoliosis that ‘appears’ like to IS. SNTG1 encodes γ-1 Syntrophin protein that is part of the dystrophin associated protein complex and interacts directly with the C-terminal of dystrophin. Its expression is restricted to neurons and particularly in those areas of the brain that have been suggested to affect postural control. The involvement of SNTG1 gene in IS was already been reported in a family with a breakpoint between exons 10 and 11. Mutational analysis of SNTG1 exons in 152 sporadic IS patients had revealed changes in three patients. In conclusion, our data add a further line of evidence suggesting SNTG1 could represent an interesting candidate for its involvement in scoliosis. • Idiopathic scoliosis (IS) is a vertebral column spinal deformity in children with a prevalence of 2%-3%. • The aetiology of IS is unknown. Genetic factors are known to play a role. • Here we describe a case of a de novo interstitial deletion 8q11.21q11.2 disrupting SNTG1 gene in a girl with IS and cognitive impairment. • SNTG1 encodes γ-1 Syntrophin protein, is expressed in neurons and particularly in brain areas that affect postural control." @default.
• W3165393689 created "2021-06-07" @default.
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• W3165393689 date "2021-09-01" @default.
• W3165393689 modified "2023-10-16" @default.
• W3165393689 title "Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption" @default.
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• W3165393689 doi "https://doi.org/10.1016/j.bone.2021.116022" @default.
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