Familial patellar dislocation associated with t(15;20) (q24;q13.1)

Chan, Cm Jimmy; Chau, YM; Woo, Siu-Bon; Luk, Ho Ming; Lo, Ivan F.M.

doi:10.1177/2309499018777026

Cited by 6 publications

(7 citation statements)

References 8 publications

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“…CM Jimmy Chan et al reported a familial recurrent patellar dislocation in 2018, which was considered autosomal dominant. Genotypic assessment suggested that the family pathogenesis was related to the balanced translocation of chromosomes 15 and 20 [ 16 ]. In this study, from the first generation to the third generation (Fig.…”

Section: Discussionmentioning

confidence: 99%

Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation

Zhang

et al. 2022

BMC Med Genomics

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Background Recurrent patellar dislocation is the result of anatomical alignment and imbalance of restraint of bone and soft tissue. We investigate the anatomical characteristics of the knee joint in a family of patients with recurrent patella dislocation, and to screen the possible pathogenic genes in this family by whole exome sequencing in 4 patients and 4 healthy subjects, so as to provide theoretical basis for the pathogenesis of this disease. Methods The data related to patella dislocation were measured by imaging data. The peripheral blood DNA of related family members was extracted for the whole exome sequencing, and then the sequencing results were compared with the human database. By filtering out synonymous variants and high-frequency variants in population databases, and then integrating single nucleotide non-synonymous variants of family members, disease-causing genes were found. Results All patients in this family have different degrees of abnormal knee anatomy, which is closely related to patella dislocation. The sequencing results of patients and normal persons in this patella dislocation family were compared and analyzed, and the data were filtered through multiple biological databases. Find HOXB9 (NM_024017.4:c.404A>G:p.Glu135Gly),COL1A1(NM_000088.3:c.3766G>A:p.Ala1256Thr),GNPAT(NM_014236.3:c1556A>G:p.Asp519Gly),NANS(NM_018946.3:c.204G>C:p.Glu68Asp),SLC26A2(NM_000112.3:c.2065A>T:p.Thr689Ser) are nonsynonymous variants (MISSENSE). Through Sanger sequencing, the identified mutations in HOXB9 and SLC26A2 genes were only present in samples from patients with recurrent patellar dislocation. Conclusions The patients with recurrent patellar dislocation had markedly abnormal knee anatomy in this family. HOXB9 gene and SLC26A2 gene were found to be the possible pathogenic genes or related genes for patella dislocation.

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Section: Discussionmentioning

confidence: 99%

Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation

Zhang

et al. 2022

BMC Med Genomics

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“…Can the results be applied to your patients/the population of interest? 12 10. Can the test be applied to your patient or population of interest?…”

Section: Table 9 Casp Diagnostic Study Checklistmentioning

confidence: 99%

“…Also, possible epidemiological factors and familial association have been suggested as risk factors for PD [4, 10–12, 28, 39, 50, 53].…”

Section: Introductionmentioning

confidence: 99%

Trochlea dysplasia, increased TT-TG distance and patella alta are risk factors for developing first-time and recurrent patella dislocation: a systematic review

Danielsen

Poulsen

Eysturoy

et al. 2023

Knee Surg Sports Traumatol Arthrosc

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PurposeThe aim of the study was to perform a systematic review and best knowledge synthesis of the present literature concerning biomechanical risk factors for developing first‐time and recurrent patella dislocation. MethodsThe study was performed as a systematic review following PRISMA guidelines. PubMed and EMBASE were systematically searched. Studies investigating participants with risk factors for first‐time as well as recurrent patella dislocation were included. The records were screened, and data extracted independently by two researchers supervised by a third independent assessor. The study was registered in PROSPERO. ResultsA total of 6233 records were screened, and 50 studies met the inclusion criteria. The biomechanical risk factors: trochlear dysplasia, increased tibial tuberosity–trochlear groove distance (TT‐TG), and patella alta were found to be statistically significantly associated with patella dislocation in several publications and were thus recognized as risk factors for patella dislocation. The soft‐tissue stabilizers: longer and thinner MPFL ligament, increased number of type 2C and decreased number of type 1 muscle fibers, and joint laxity were found to be statistically significantly associated with patella dislocation in a few publications, but due to limited evidence, no conclusion was made on this matter. ConclusionThere is strong evidence in the literature that abnormalities of bony stabilizers, trochlear dysplasia, increased TT–TG distance, and patella alta are risk factors for patella dislocation. There is less evidence that soft‐tissue stabilizers are risk factors. The study emphasizes the importance of a thorough investigation of bony stabilizers in clinical decision‐making. Level of evidenceLevel IV.

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“…In addition, three other studies ind various numbers of participants with familial association with PD [12,23,59] Thompson et al suggest an inheritance of a recessive gene as a risk factor for PD [65], while others say that the cause of PD may be an autosomal dominant disorder [14,16,45,55]. Eleven studies show familial association with PD in a few members across generations [11,13,14,16,25,45,47,49,54,55,65] (Table 1 and Appendix 3).…”

Section: Familial Associationmentioning

confidence: 99%

“…Familial association has also been suggested as a risk factor for PD [5, 13, 14, 22, 41, 54], but the associations have not been well investigated [13, 14]. PD has been suggested as an autosomal dominant disease [16] as well as a clinical manifestation in rare syndromes, such as DiGeorge, Leri‐Weill, and Kabuki [35, 43, 50].…”

Section: Introductionmentioning

confidence: 99%

Familial association and epidemilogical factors as risk factors for developing first time and recurrent patella dislocation: a systematic review and best knowledge synthesis of present literature

Danielsen

Poulsen

Eysturoy

et al. 2023

Knee Surg Sports Traumatol Arthrosc

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Purpose The aim of our study was to perform a systematic review and best knowledge synthesis of the present literature concerning the familial association and epidemiological factors as risk factors for developing irst-time and recurrent patella dislocation. MethodsThe study was conducted according to the PRISMA guidelines and registered in PROSPERO. EMBASE and PubMed were systematically searched on the 5th of May 2022. Studies investigating participants with genetic and epidemiological risk factors for the irst time as well as recurrent patella dislocation were included. The records were screened, and data were extracted independently by two researchers supervised by a third independent assessor. Results A total of 6,649 records were screened, and 67 studies were included. Familial association was described as a risk factor for patella dislocation in 17 studies. One study found that participants with a family history of patella dislocation had a 3.7 higher risk for patella dislocation in the contralateral asymptomatic knee, and another study found a family history of PD in 9% of 74 participants. Eleven studies found an accumulation of patella dislocation across generations in speciic families. Additionally, a range of genetic syndromes was associated with patella dislocation. Young age is a well-investigated risk factor for patella dislocation, but the results are inconsistent. Only ive and eight studies investigated skeletal immaturity and gender as risk factors for patella dislocation, respectively. Conclusion There may be a familial association with patella dislocation, but further investigation is necessary to determine the strength and etiology of the association. There is weak evidence that epidemiological risk factors, such as age, skeletal immaturity, gender, and BMI are risk factors for patella dislocation. Level of evidence IV.

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Familial patellar dislocation associated with t(15;20) (q24;q13.1)

Cited by 6 publications

References 8 publications

Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation

Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation

Trochlea dysplasia, increased TT-TG distance and patella alta are risk factors for developing first-time and recurrent patella dislocation: a systematic review

Familial association and epidemilogical factors as risk factors for developing first time and recurrent patella dislocation: a systematic review and best knowledge synthesis of present literature

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