Mutations in COMP cause familial carpal tunnel syndrome

Li, Chunyu; Wang, Ni; Schäffer, Alejandro A.; Li, Xilin; Zhuo, Zhao; Elliott, Gene; Garrett, Lisa; Choi, Nga Ting; Wang, Yueshu; Wang, Yufa; Wang, Cheng; Wang, Jin; Chan, Danny; Su, Peiqiang; Cui, Shusen; Yang, Yingzi; Gao, Bo

doi:10.1038/s41467-020-17378-z

Cited by 16 publications

(6 citation statements)

References 75 publications

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“…Li et al also revealed the critical roles of ECM proteins in the cellular stress response in the pathogenesis of CTS with identification of two causative mutations in cartilage oligomeric matrix protein (COMP) [45]. The genetic predisposition to CTS development is suspected with: early onset of CTS in young individuals, repeated disease ocurrence in the same family as well as an increased incidence of CTS in relatives than in the general population.…”

Section: Pathophysiologymentioning

confidence: 99%

Carpal tunnel syndrome: state-of-the-art review

Osiak¹,

Elnazir

Walocha

et al. 2022

Folia Morphol

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Section: Pathophysiologymentioning

confidence: 99%

Carpal tunnel syndrome: state-of-the-art review

Osiak¹,

Elnazir

Walocha

et al. 2022

Folia Morphol

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“…WES was performed for all recruited patients with congenital hemivertebrae and participating family members by Novogene Co, Ltd. (Hong Kong, China), using the Agilent SureSelect Human All Exon Kit on the Illumina sequencing platform. The WES data were processed as described previously [20]. The raw sequence data were first analyzed by fastp for quality control and filtering [21].…”

Section: Whole-exome Sequencing (Wes) and Copy Number Variations (Cnvs) Callingmentioning

confidence: 99%

Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis

Lai

Xin

Ming

et al. 2021

Genes

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Congenital scoliosis (CS) is a lateral curvature of the spine resulting from congenital vertebral malformations (CVMs) and affects 0.5–1/1000 live births. The copy number variant (CNV) at chromosome 16p11.2 has been implicated in CVMs and recent studies identified a compound heterozygosity of 16p11.2 microdeletion and TBX6 variant/haplotype causing CS in multiple cohorts, which explains about 5–10% of the affected cases. Here, we studied the genetic etiology of CS by analyzing CNVs in a cohort of 67 patients with congenital hemivertebrae and 125 family controls. We employed both candidate gene and family-based approaches to filter CNVs called from whole exome sequencing data. This identified 12 CNVs in four scoliosis-associated genes (TBX6, NOTCH2, DSCAM, and SNTG1) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as DHX40, NBPF20, RASA2, and MYSM1, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the Mysm1 mutant mouse showed spinal deformities. Our findings suggest that, in addition to the 16p11.2 microdeletion, other CNVs are potentially important in predisposing to CS.

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“…Few studies have reported that on a genetic level there are at least 16 susceptible loci for CTS, and most of these genes are expressed in the aponeuroses [ 10 ]. The involved mechanism is reportedly involved the damage of tendon cells to cartilage oligomeric matrix protein secretion [ 11 ]; however, insufficient evidence is available to support the above-mentioned theory. Concurrently, the occurrence of CTS has been confirmed to be significantly associated with the incidence of heart diseases.…”

Section: Introductionmentioning

confidence: 99%

A comparative study on efficacy of modified endoscopic minimally invasive treatment and traditional open surgery for primary carpal tunnel syndrome

Zheng

Cheng

et al. 2023

J Orthop Surg Res

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Background and Objective Carpal tunnel syndrome (CTS) is the most common type of median nerve entrapment neuropathy. This study aims to comparatively assess the effectiveness and clinical efficacy of modified transforaminal endoscopic minimally invasive incision of transverse carpal ligament against traditional open incision of transverse carpal ligament in the treatment of CTS. Method The clinical data of 35 patients (57 wrists) with primary CTS treated in Shanxi Bethune Hospital, China, were retrospectively analyzed. The patients were divided into observation group (21 cases, 33 wrists) and control group (14 cases, 24 wrists), respectively, who underwent modified endoscopic minimally invasive incision of transverse carpal ligament and traditional open incision of transverse carpal ligament release. The Boston Carpal Tunnel Questionnaire (BCTQ) was assessed at for points: before the operation; 2 weeks; 1 month; and 3 months after operation. The BCTQ scores of the two groups were compared on all four points. The incidence of intraoperative and postoperative complication was used as the evaluation index. The study variables were comparatively assessed before and postoperation and also between the groups. Results The BCTQ scores at 2 weeks, 1 month and 3 months after the operation were significantly lower than preoperative BCTQ scores (P < 0.005) for both the groups. There was no significant difference in BCTQ scores between the two groups at the four assessment points (P > 0.005). The scar size and wound healing time were significantly better with modified transforaminal endoscopic minimally invasive transverse carpal ligament incision. Conclusion The clinical effects of both modified transforaminal minimally invasive incision of transverse carpal ligament and traditional open incision of transverse carpal ligament are significant, while the treatment efficacy of modified transforaminal minimally invasive transverse carpal ligament incision is better in terms of operation time, wound size, postoperative scar size and incision healing time.

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Mutations in COMP cause familial carpal tunnel syndrome

Cited by 16 publications

References 75 publications

Carpal tunnel syndrome: state-of-the-art review

Carpal tunnel syndrome: state-of-the-art review

Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis

A comparative study on efficacy of modified endoscopic minimally invasive treatment and traditional open surgery for primary carpal tunnel syndrome

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