Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Acke, Frederic; Malfait, Fransiska; Vanakker, Olivier; Steyaert, Wouter; Leeneer, Kim De; Mortier, Geert; Dhooge, Ingeborg; Paepe, Anne De; Leenheer, Els De; Coucke, Paul

doi:10.1016/j.ymgme.2014.09.001

Cited by 49 publications

(41 citation statements)

References 33 publications

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“…However, further analysis on the COL11A1 region did reveal that an alternative SNP (rs10047217), which was in moderate LD with rs4907986, had a stronger association with hip shape, suggesting that this SNP could be the causal SNP. COL11A1 encodes COL11A1, a fibrillary protein within cartilage, mutations of which are known to cause severe OA secondary to spondyloepiphyseal dysplasia, as in Stickler syndrome . Our observation that COL11A1 risk alleles are associated with lateral displacement of the femoral head relative to the acetabulum is reminiscent of acetabular dysplasia.…”

Section: Discussionmentioning

confidence: 78%

Investigation of the Relationship Between Susceptibility Loci for Hip Osteoarthritis and Dual X‐Ray Absorptiometry–Derived Hip Shape in a Population‐Based Cohort of Perimenopausal Women

Baird

Paternoster

Gregory

et al. 2018

Arthritis & Rheumatology

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Section: Discussionmentioning

confidence: 78%

Investigation of the Relationship Between Susceptibility Loci for Hip Osteoarthritis and Dual X‐Ray Absorptiometry–Derived Hip Shape in a Population‐Based Cohort of Perimenopausal Women

Baird

Paternoster

Gregory

et al. 2018

Arthritis & Rheumatology

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“…One of the limitations of this study has been the sample size resulting from financial limitations given the high cost of genetic testing, although similar sample sizes have been used by other authors 23 Table 1. Genotype Frequencies For SNPs Studied.…”

Section: Discussionmentioning

confidence: 99%

“…Mutations in COL11A2 have been associated with otospondylomegaepiphyseal dysplasia 21 and Weissenbacher-Zweymüller syndrome 22 . Both COL11A1 and A2 have been associated with Stickler syndrome 23 . All of these disorders can impact joint extensibility or cause collagen-related skeletal abnormalities.…”

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confidence: 99%

Influence of genetic factors in elbow tendon pathology: a case-control study

Alakhdar

Cook

Benítez-Martínez

et al. 2020

Sci Rep

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Elbow tendinopathy is a common pathology of the upper extremity that impacts both athletes and workers. Some research has examined the genetic component as a risk factor for tendinopathy, mainly in the lower limbs. A case-control study was designed to test for a relationship between certain collagen gene single nucleotide polymorphisms (SNPs) and elbow tendon pathology. A sample of 137 young adult athletes whose sports participation involves loading of the upper limb were examined for the presence of structural abnormalities indicative of pathology in the tendons of the lateral and medial elbow using ultrasound imaging and genotyped for the following SNPs: COL5A1 rs12722, COL11A1 rs3753841, COL11A1 rs1676486, and COL11A2 rs1799907. Anthropometric measurements and data on participants' elbow pain and dysfunction were collected using the Disabilities of the Arm, Shoulder and Hand and the Mayo Clinic Performance Index for the Elbow questionnaires. Results showed that participants in the structural abnormality group had significantly higher scores in pain and dysfunction. A significant relationship between COL11A1 rs3753841 genotype and elbow tendon pathology was found (p = 0.024), with the CT variant associated with increased risk of pathology.Tendinopathy is a common condition that affects a large portion of the population, making up 30% of all musculoskeletal injuries 1 and being the most prevalent tendon disorder 2 . It is generally defined as an overuse injury resulting in tendon degeneration after a failed early inflammatory healing response 3 , leading to collagen disorientation and disorganization in the absence of classic inflammatory changes, accompanied by pain and dysfunction 4,5 . Tendon homeostasis relies on a dynamic remodeling process influenced by tendon loading and cytokines, among other things. Evidence support the expression and functional involment of pro-inflammatory cytokines such as interleukin-1ß in tissues surrounding mechanically injured tendon 6 . Tendon inflammation and tendinopathy are possible manifestations of a disturbance of this homeostasis. The role of inflammation in tendon healing or failure to heal is complex and not fully understood, but it is known that an initial inflammatory response is required to begin the healing process. On the other hand, cytokines appear to be capable of inducing a failed healing response in several diseases of connective tissue (cartilage, bone, synovial joint) possibly by altering the expression of matrix metalloproteinases 7 . Probably the tendon is no exception, although there are no conclusive data at present on the role of these cytokines in the tendinopathy development 6,7 .The exact incidence of elbow tendinopathy is unknown, but it is estimated to affect 1-3% of adults each year in the lateral elbow 8 and 0.1-0.75% in the medial elbow 9 . It has been reported that the pathogenesis of the medial pathology parallels that of the lateral pathology, with similar patterns of angiofibroblastic degeneration 10 . In athletes, individuals who practice s...

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“…In recent years, advances and improvements in targeted next-generation sequencing (NGS) technology have highlighted its efficiency for identifying causative mutations in Mendelian disorders. Such achievements have also been witnessed in hearing loss cohorts, with many studies reporting great successes in the identification of causative variants (Shearer et al, 2010(Shearer et al, , 2013Brownstein et al, 2011;Tang et al, 2012;Chatterjee et al, 2013;Acke et al, 2014).…”

Section: Introductionmentioning

confidence: 96%

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss

Chen

Dong

Wang

et al. 2016

Genetic Testing and Molecular Biomarkers

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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Cited by 49 publications

References 33 publications

Investigation of the Relationship Between Susceptibility Loci for Hip Osteoarthritis and Dual X‐Ray Absorptiometry–Derived Hip Shape in a Population‐Based Cohort of Perimenopausal Women

Investigation of the Relationship Between Susceptibility Loci for Hip Osteoarthritis and Dual X‐Ray Absorptiometry–Derived Hip Shape in a Population‐Based Cohort of Perimenopausal Women

Influence of genetic factors in elbow tendon pathology: a case-control study

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss

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