ArticleClinical orthopaedics and related research2010
The Otto Aufranc Award: Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family.
Article in Clinical orthopaedics and related research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Analysis of LRP1 gene mutation in developmental dysplasia of the hip: a case series.BMC medical genomics · 2026Article
- Genetics of morphological hip abnormalities and their implications for osteoarthritis: a scoping review.Journal of hip preservation surgery · 2025Review
- Ultrasonographic screening for developmental dysplasia of the hip: the Graf method revisited.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2024Review
- Deciphering the pathogenic role of rareFrontiers in genetics · 2024Article
- Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip.Frontiers in genetics · 2024Review
- Genome-Wide Association Study and Transcriptome of Japanese Patients with Developmental Dysplasia of the Hip Demonstrates an Association with the Ferroptosis Signaling Pathway.International journal of molecular sciences · 2023Article
- The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis.Calcified tissue international · 2021Review
- Current Evidence about Developmental Dysplasia of the Hip in Pregnancy.Medicina (Kaunas, Lithuania) · 2021Review
- Current knowledge on the genetic background of developmental dysplasia of the hip and the histomorphological status of the cartilage.Croatian medical journal · 2020Review
- Mapping of developmental dysplasia of the hip to two novel regions at 8q23-q24 and 12p12.Experimental and therapeutic medicine · 2020Article
- Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects.Medicina (Kaunas, Lithuania) · 2020Review
- Computer-Aided System Application Value for Assessing Hip Development.Frontiers in physiology · 2020Article
- Developmental dysplasia of the hip: a systematic literature review of the genes related with its occurrence.EFORT open reviews · 2019Review
- Developmental Dysplasia of Hip: Perspectives in Genetic Screening.Medical sciences (Basel, Switzerland) · 2019Review
- Poorer radiological outcome after delayed diagnosis and treatment in human position in Fettweis plaster cast in 93 unstable hip joints type D, III and IV according to Graf.Journal of children's orthopaedics · 2018Article
- Genome-wide association study of developmental dysplasia of the hip identifies an association withCommunications biology · 2018Article
- A recurrent mutation in bone morphogenetic proteins-2-inducible kinase gene is associated with developmental dysplasia of the hip.Experimental and therapeutic medicine · 2017Article
- Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.BMC medical genetics · 2017Article
- Article
- Emerging insights into the genetic basis of canine hip dysplasia.Veterinary medicine (Auckland, N.Z.) · 2015Review
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8 authors.
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Abstract
Developmental dysplasia of the hip (DDH) is a disabling condition that, depending on geography, can afflict between 20% and 80% of patients with end-stage arthritis of the hip. Despite its prevalence, the etiology of this disease remains unknown. DDH is a complex disorder with both environmental and genetic causes. Based on the literature the candidate genes for the disease are HOXB9, collagen type I alpha1, and DLX 3. The purpose of our study was to map and characterize the gene or genes responsible for this disorder by family linkage analysis. We recruited one 18-member, multigeneration affected family to provide cheek swabs and blood samples for isolation of DNA. Amplified DNA underwent a total genome scan using GeneChip Mapping 250 K Assay (Affymetrix, Santa Clara, CA). We observed only one region with a LOD score greater than 1.5: a 4 Mb region on chromosome 17q21.32, yielding a LOD score of 1.82. While a LOD score of 1.82 does not meet the accepted standard for linkage we interpret these data as suggesting the responsible gene could be linked to this region, which includes a cluster of homeobox genes (HOX genes) that are part of the developmental regulatory system providing cells with specific positional identities along the developing joint and spine. Discovering the genetic basis of the disease would be an important step in understanding the etiology of this disabling condition.
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