Developmental Dysplasia of Hip: Perspectives in Genetic Screening

Zamborský, Radoslav; Kokavec, M; Harsanyi, Stefan; Attia, Doaa; Danišovič, Ľuboš

doi:10.3390/medsci7040059

Cited by 28 publications

(26 citation statements)

References 45 publications

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“…Genetic mutations, such as CX3CR1, UFSP2, ubiquinol-cytochrome-c reductase complex, PAPPA2, GDF5 and TENM3, were identified in these regions. The present results and previously identified chromosome regions may be related to the growing development of the hip joint according to the function of genes included in these regions (10,12,13,(19)(20)(21)(22). DDH was previously associated with the D17S1820 marker from chromosome region 17q21 by analysing 303 individuals from 101 Chinese trios (data not shown).…”

Section: Discussionsupporting

confidence: 77%

Mapping of developmental dysplasia of the hip to two novel regions at 8q23‑q24 and 12p12

Zhang

Chen

et al. 2020

Exp Ther Med

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Developmental dysplasia of the hip (DDH), previously known as congenital hip dislocation, is a frequently disabling condition characterized by premature arthritis later in life. Genetic factors play a key role in the aetiology of DDH. In the present study, a genome-wide linkage scan with the Affymetrix 10K GeneChip was performed on a four-generation Chinese family, which included 19 healthy members and 5 patients. Parametric and non-parametric multipoint linkage analyses were carried out with Genespring GT v.2.0 software, and the logarithm of odds (LOD) score and nonparametric linkage (NPL) score were calculated. Parametric linkage analysis was performed, assuming an autosomal recessive trait with full penetrance and Affymetrix 'Asian' allele frequencies. The strongest evidence for linkage was found on chromosome 8q23-24, with a peak LOD score of 2.658 (θ=0), covering 2.377 Mb from single nucleotide polymorphisms (SNPs) rs724717 to rs720132. This interval included nine additional successive SNPs: rs1566071, rs1902121, rs756404, rs702768, rs777813, rs2033995, rs147959, rs2884367 and rs1898287. The same region also yielded the highest NPL score of 2.883 (P=0.0156) from the non-parametric multipoint linkage analysis. Additionally, the second highest NPL score of 2.727 (P= 0.0156) and LOD score of 2.528 (θ= 0) were obtained on chromosome 12p12 for three consecutive markers (rs1919980, rs763853 and rs725124). This region overlapped a narrow distance of 0.642 Mb. Notably, in addition to these two regions; no significant linkage was identified for other chromosomal regions (with LOD and NPL scores >2.0). For the first time, at least for this pedigree, the evidence in the present study showed that DDH is mapped to two novel regions at 8q23-q24 and 12p12.

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Section: Discussionsupporting

confidence: 77%

Mapping of developmental dysplasia of the hip to two novel regions at 8q23‑q24 and 12p12

Zhang

Chen

et al. 2020

Exp Ther Med

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“…DDH, characterized by uncovering of the femoral head and in its most severe forms complete dislocation of the hip joint (58), is a common cause of premature HOA in young adults (59) and has a strong genetic component (60). A recent GWAS identified a robustly replicating association between genetic locus at GDF5 (previously found to be associated with HOA risk (45, 52)) and DDH case status (47).…”

Section: Genetic Influences On Hip Shape and Oamentioning

confidence: 99%

Unpicking observational relationships between hip shape and osteoarthritis: hype or hope?

Faber

Frysz

Tobias

2020

Current Opinion in Rheumatology

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To review recent findings concerning the observational relationship between hip shape and hip osteoarthritis (HOA) and their shared genetic influences, and the potential for clinical application. Recent findingsRecent observational studies have strengthened the evidence that specific shape deformities, such as cam and acetabular dysplasia, are related to HOA. Statistical shape modelling has emerged as a method to measure hip shape holistically, with the added advantage that this can be applied to DXA scan images. This has led to several additional aspects of hip shape variation being identified, such as a wider femoral neck and larger lesser trochanter, in association with HOA. Furthermore, this method has formed the basis of genetic studies identifying novel genetic influences on hip shape, several of which are shared with known genetic risk factors for HOA. SummaryShared genetic influences of hip shape and HOA raise the possibility that hip shape plays a casual role in the development of HOA, justifying preventative approaches aiming to combat these adverse consequences.

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“…An equality sign is placed between them, treating them as synonyms usually grouped under one name, i.e. developmental dysplasia of the hip (DDH) [13][14][15] . Some publications use the following terms interchangeably: congenital hip dysplasia 3 , congenital hip dislocation 16 , developmental deformity of the hip 17 .…”

Section: Introductionmentioning

confidence: 99%

Dysplasia, malformation, or deformity? - explanation of the basis of hip development disorders and suggestions for future diagnostics and treatment

Dygut

Piwowar

2021

F1000Res

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This publication focuses on processes that disrupt the proper development of the hip. Four pathomechanisms underlying human developmental defects are described in the literature, i.e. dysplasia, malformation, disruption, and deformity. In the case of hip development, arguably the greatest challenge involves confusion between dysplasia and deformity, which often leads to misdiagnosis, incorrect nomenclature, and incorrectly chosen treatment. The paper presents a description of hip joint development disorders in the context of their pathomechanisms. An attempt was made to answer the question of whether these disorders are rooted in a primary disorder of tissue growth, resulting in its incorrect anatomy, or are the result of anatomical deformation with secondary modifications in tissue structures of a degenerative or adaptive nature, based on Deplesch-Heuter-Volkmann growth and remodeling laws. In addition, the emphasis is placed on attention to the presence of the so-called clinically and diagnostically mute cases. The need to augment diagnostic procedures with genetic tests to increase the sensitivity of screening has also been suggested. Based on the arguments presented in the paper, a new division of developmental hip disorders has been proposed.

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Developmental Dysplasia of Hip: Perspectives in Genetic Screening

Cited by 28 publications

References 45 publications

Mapping of developmental dysplasia of the hip to two novel regions at 8q23‑q24 and 12p12

Mapping of developmental dysplasia of the hip to two novel regions at 8q23‑q24 and 12p12

Unpicking observational relationships between hip shape and osteoarthritis: hype or hope?

Dysplasia, malformation, or deformity? - explanation of the basis of hip development disorders and suggestions for future diagnostics and treatment

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