ArticleBMC medical genetics2017
Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.
Article in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Developmental Dysplasia of the Hip in Saudi Arabia and the Gulf Countries:Saudi medical journal · 2026Pooled it
- Genetics of morphological hip abnormalities and their implications for osteoarthritis: a scoping review.Journal of hip preservation surgery · 2025Review
- Mutation in theFrontiers in genetics · 2024Article
- Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip.Frontiers in genetics · 2024Review
- Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.International journal of molecular sciences · 2023Article
- Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.Molecular genetics and genomics : MGG · 2023Article
- Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip.BMC medical genomics · 2022Article
- Simultaneous detection of novel genes and SNPs by adaptiveFrontiers in genetics · 2022Article
- The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis.Calcified tissue international · 2021Review
- Replicative verification of susceptibility genes previously identified from families with segregating developmental dysplasia of the hip.Italian journal of pediatrics · 2021Article
- Further Evidence of a Recessive Variant inGlobal medical genetics · 2020Article
- 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
- Assessing the risk of asymptomatic dysplasia in parents of children with developmental hip dysplasia.Acta orthopaedica et traumatologica turcica · 2019Article
- Developmental Dysplasia of Hip: Perspectives in Genetic Screening.Medical sciences (Basel, Switzerland) · 2019Review
- Genetic variant of WIF1 gene is functionally associated with developmental dysplasia of the hip in Han Chinese population.Scientific reports · 2019Article
- Musculoskeletal ultrasound: a useful tool for diagnosis of hip developmental dysplasia: One single-center experience.Medicine · 2019Observational
- A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.Chinese medical journal · 2018Article
- Association analysis between four vitamin D receptor gene polymorphisms and developmental dysplasia of the hip.Journal of genetics · 2018Article
- CORR Insights®: The 2018 Nicholas Andry Award: The Evidence Base for the Treatment of Developmental Dysplasia of the Hip: The Iowa Contribution.Clinical orthopaedics and related research · 2018Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDevelopmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family.
methodsWe performed whole genome genotyping using Illumina HumanOmni 2.5 M array and whole exome sequencing (WES) using Nextera Rapid capture kit and Illumina NextSeq500 instrument in four individuals of a family with DDH.
resultsSNP data analysis did not identify any runs of homozygosity and copy number variations. Identity-by-descent (IBD) analysis on whole genome genotyping data identified a shared haplotypes on chromosome 1 in affected individuals. An analysis of the WES data identified rare heterozygous variants in HSPG2 and ATP2B4 genes in the affected individuals. Multiple prediction software predicted that the variants identified are damaging. Moreover, in silico analysis showed that HSPG2 regulates ATP2B4 expression using a variety of transcription factors.
conclusionOur results indicate that there might be a functional epistatic interaction between HSPG2 and ATP2B4, and DDH in the family studied is due to a combined effect of both variants. These variants are also present in the asymptomatic mother suggesting that the variants in HSPG2 and ATP2B4 are incompletely penetrant. This study provides the first evidence of digenic inheritance of DDH in a family and extends the spectrum of genetic heterogeneity in this human disorder.
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