Whole genome sequencing of pairwise human subjects reveals DNA mutations specific to developmental dysplasia of the hip

Zhu, Ling; Su, Guanghao; Dai, Jin; Zhang, Wenyan; Yin, Chunhua; Zhang, Fu-Yong; Zhu, Zhifeng; Guo, Zhi‐Xin; Fang, Jianfeng; Zou, Chengda; Chen, Xingguang; Ya, Zhang; Xu, Cai-ying; Zhen, Yunfang; Wang, Xiaodong

doi:10.1016/j.ygeno.2018.02.006

Cited by 13 publications

(14 citation statements)

References 54 publications

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“…Despite the lack of universal formal agreement about DDH screening, early diagnosis and management of DDH were proved to prevent long-term disabilities and provide the best clinical outcomes [9,33].…”

Section: Discussionmentioning

confidence: 99%

“…Neonatal hip examination (Ortolani and Barlow maneuvers) is the initial and most important part of DDH screening program [9,33,34]. Ultrasonography is considered the most reliable for screening in children less than 3 years, however, pelvic imaging is the standard method after the age of 3 years [34].…”

Section: Discussionmentioning

confidence: 99%

“…Both linkage analysis studies and exome data supported the association of CX3CR1 and DDH (Table 1). Zhu et al [33] found, that the ribosome biogenesis factor (BMS1) is associated with DDH, because it affects mineral density and resorption in bones.…”

Section: Study Designsmentioning

confidence: 99%

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Developmental Dysplasia of Hip: Perspectives in Genetic Screening

et al. 2019

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Development dysplasia of the hip (DDH) is a complex developmental disorder despite being a relatively common condition mainly caused by incompatibility of the femoral head and the abnormal joint socket. Development dysplasia of the hip describes a wide spectrum of disorders ranging from minor acetabular dysplasia to irreducible dislocation of the hip. Modern medicine still suffers from lack of information about screening and precise genetic examination. Genome wide linkage and association studies have brought significant progress to DDH diagnosis. Association studies managed to identify many candidate (susceptible) genes, such as PAPPA2, COL2A1, HOXD9, GDF-5, and TGFB1, which play a considerable role in the pathogenesis of DDH. Early detection of DDH has a big chance to help in preventing further disability and improve the psychological health and quality of life in those children. This emphasizes the importance to establish a universal screening program along with the genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Developmental Dysplasia of Hip: Perspectives in Genetic Screening

et al. 2019

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“…On the other hand, WES (whole-exome sequencing), an NGS method with a much larger output, is becoming the focus in genetic studies. As of yet, only three genes have been identified by WES: the CXCR1 (C-X-C motif chemokine receptor 1) gene in 2013, the BMS1 (ribosome biogenesis factor) gene in 2018 [45] and the TENM3 (teneurin 3) gene in 2019 [46].…”

Section: Genetic Aspectsmentioning

confidence: 99%

Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects

Harsanyi¹,

Zamborský²,

Krajčíová³

et al. 2020

Medicina

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As one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, poses a challenge in understanding this disorder. Candidate gene association studies (CGASs) along with genome-wide association studies (GWASs) and genome-wide linkage analyses (GWLAs) have found numerous genes and loci with susceptible DDH association. Studies put major importance on candidate genes associated with the formation of connective tissue (COL1A1), osteogenesis (PAPPA2, GDF5), chondrogenesis (UQCC1, ASPN) and cell growth, proliferation and differentiation (TGFB1). Recent studies show that epigenetic factors, such as DNA methylation affect gene expression and therefore could play an important role in DDH pathogenesis. This paper reviews all existing risk factors affecting DDH incidence, along with candidate genes associated with genetic or epigenetic etiology of DDH in various studies.

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“…From a technical standpoint, the goal in the early treatment is to achieve and maintain the concentric reduction of the acetabulum and femoral head to allow for continuing normal development of the hip. However, if allowed to natural progress without treatment, the femoral head may gradually displace proximally or laterally, leading to accelerated degeneration of the articular cartilage and hip osteoarthritis in young adults ( 7 , 8 ). Previous studies showed that approximately 17% of patients with DDH requiring the open surgical intervention of a dislocated hip in childhood may eventually progress to total hip arthroplasty (THA).…”

Section: Introductionmentioning

confidence: 99%

The Global Research Trends and Hotspots on Developmental Dysplasia of the Hip: A Bibliometric and Visualized Study

Wang

Tong

et al. 2021

Front. Surg.

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Background: Developmental dysplasia of the hip (DDH) is a common musculoskeletal disorder in newborns and also one of the most common causes of hip arthritis in women. Many topics concerning DDH still remain controversial, and the global research trend in this field has not been well-studied yet. The aim of the present study was to illustrate the overall knowledge structure, development trends, and research hotspots of DDH.Methods: The publications related to DDH from 1998 to 2020 were identified from the Web of Science Core Collection (WOSCC). Three bibliometric tools were used to conduct visualization and knowledge maps. Annual trends of publications, contributions of countries, institutions, authors, funding agencies and journals, and clustering of keywords were analyzed.Results: A total of 2,691 publications were included. The annual number of DDH publications showed an increasing trend worldwide. The United States has made the greatest contribution, with the largest number of publications and the highest H-index. The most prolific institutions were Shanghai Jiao Tong University, Children's Hospital of Philadelphia, and Shriners Hospital for Children. Professors Tönnis D, Harris WH, Crowe JF, Graf R, and Salter RB have made great achievements in this field. However, the collaboration between international institutions or researchers was relatively low and mainly conducted in European and American countries. All the keywords could be divided into five clusters: hip osteoarthritis study, hip replacement study, hip ultrasound study, osteotomy surgery study, and etiology study. A trend of balanced and diversified development existed in these clusters. Keywords with the ongoing bursts, including clinical outcome, risk factor, femoroacetabular impingement, predictor, arthroscopy, morphology, and anteversion may continue to be the research hotspots in the near future.Conclusions: There will be an increasing number of publications on DDH research, and the United States stay ahead in this field. International collaboration needs to be further strengthened. The information can provide helpful references for researchers to explore hot issues or target a specific field of DDH.

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Whole genome sequencing of pairwise human subjects reveals DNA mutations specific to developmental dysplasia of the hip

Cited by 13 publications

References 54 publications

Developmental Dysplasia of Hip: Perspectives in Genetic Screening

Developmental Dysplasia of Hip: Perspectives in Genetic Screening

Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects

The Global Research Trends and Hotspots on Developmental Dysplasia of the Hip: A Bibliometric and Visualized Study

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