Scoliosis, isolated, susceptibility to, 1(IS1)

MedGen UID:: 438003
•Concept ID:: C2700406
•: Finding

Synonyms:	ADOLESCENT ISOLATED SCOLIOSIS; IS1

Monarch Initiative:	MONDO:0008419
OMIM®:	181800

Definition

Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994). Scoliosis may occur secondary to other hereditary disorders including Marfan syndrome (154700), dysautonomia (223900), neurofibromatosis (see 162200), Friedreich ataxia (see 229300), and muscular dystrophies. Genetic Heterogeneity of Susceptibility to Isolated Scoliosis Loci for isolated scoliosis have been mapped to chromosome 19 (IS1), chromosome 17 (IS2; 607354), chromosome 8 (IS3; 608765), chromosome 9q31-q34 (IS4; 612238), and chromosome 17q25-qter (IS5; 612239). [from OMIM]

Clinical features

From HPO

Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

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Abnormality of the musculoskeletal system
- Scoliosis

Recent clinical studies

Etiology

Clinical outcome of postoperative surgical site infections in patients with posterior thoracolumbar and lumbar instrumentation.

Zhang T, Lian X, Chen Y, Cai B, Xu J
J Hosp Infect 2022 Oct;128:26-35. Epub 2022 Jul 1 doi: 10.1016/j.jhin.2022.06.014. PMID: 35788013

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.

Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Lupski JR, Posey JE, Chen S, Gong C, Wu N
J Genet Genomics 2021 May 20;48(5):396-402. Epub 2021 Mar 22 doi: 10.1016/j.jgg.2021.02.008. PMID: 34006472

Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.

Michael Yates T, Ng OH, Offiah AC, Willoughby J, Berg JN; DDD Study, Johnson DS
Am J Med Genet A 2019 Jan;179(1):43-49. Epub 2018 Dec 17 doi: 10.1002/ajmg.a.60678. PMID: 30556256

Are copy number variants associated with adolescent idiopathic scoliosis?

Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB, Gurnett CA
Clin Orthop Relat Res 2014 Oct;472(10):3216-25. Epub 2014 Jul 9 doi: 10.1007/s11999-014-3766-8. PMID: 25005481 Free PMC Article

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