Genetics of developmental dysplasia of the hip
- PMID: 32540376
- DOI: 10.1016/j.ejmg.2020.103990
Genetics of developmental dysplasia of the hip
Abstract
In the last decade, the advances in the molecular analyses and sequencing techniques allowed researchers to study developmental dysplasia of the hip (DDH) more thoroughly. Certain chromosomes, genes, loci and polymorphisms are being associated with variable severity of this disorder. The wide range of signs and symptoms is dependent either on isolated or systemic manifestation. Phenotypes of isolated cases range from only a mild ligamental laxity, through subluxation, to a complete dislocation of the femoral head. Systemic manifestation is connected to various forms of skeletal dysplasia and other malformations characterized by significant genetic aberrations. To reveal the background of DDH heredity, multiple studies focused on large sample sizes with an emphasis on the correlation between genotype, phenotype and continuous clinical examination. Etiological risk factors that have been observed and documented in patients include genetic, environmental, and mechanical factors, which significantly contribute to the familial or nonfamilial occurrence and phenotypic variability of this disorder. Still, the multifactorial etiology and pathogenesis of DDH are not yet sufficiently clarified, explained, or understood. Formation of connective tissue, osteogenesis, chondrogenesis, and all other affected pathways and variations in the function of their individual elements contribute to the creation of the pathology in a developing human body. This review article presents an up-to-date list of known DDH associated genes, their products, and functional characteristics.
Keywords: Associated genes; DDH; Developmental dysplasia of the hip; Genetic predisposition; Heredity.
Copyright © 2020 Elsevier Masson SAS. All rights reserved.
Similar articles
-
Secreted frizzled-related protein 3 was genetically and functionally associated with developmental dysplasia of the hip.Aging (Albany NY). 2021 Apr 4;13(8):11281-11295. doi: 10.18632/aging.202815. Epub 2021 Apr 4. Aging (Albany NY). 2021. PMID: 33820867 Free PMC article.
-
Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip.Genes (Basel). 2021 Jun 28;12(7):986. doi: 10.3390/genes12070986. Genes (Basel). 2021. PMID: 34203285 Free PMC article.
-
Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects.Medicina (Kaunas). 2020 Mar 31;56(4):153. doi: 10.3390/medicina56040153. Medicina (Kaunas). 2020. PMID: 32244273 Free PMC article. Review.
-
Heterozygous LRP1 deficiency causes developmental dysplasia of the hip by impairing triradiate chondrocytes differentiation due to inhibition of autophagy.Proc Natl Acad Sci U S A. 2022 Sep 13;119(37):e2203557119. doi: 10.1073/pnas.2203557119. Epub 2022 Sep 6. Proc Natl Acad Sci U S A. 2022. PMID: 36067312 Free PMC article.
-
Developmental dysplasia of the hip: A systematic review of susceptibility genes and epigenetics.Gene. 2023 Feb 15;853:147067. doi: 10.1016/j.gene.2022.147067. Epub 2022 Nov 23. Gene. 2023. PMID: 36435507 Review.
Cited by
-
The incidence of late-detected developmental dysplasia of the hip and its functional outcomes: a 17-year cohort study using selective ultrasound screening.Acta Orthop. 2023 Dec 11;94:588-593. doi: 10.2340/17453674.2023.24578. Acta Orthop. 2023. PMID: 38084932 Free PMC article.
-
Clinical Examination Findings Can Accurately Diagnose Developmental Dysplasia of The Hip-A Large, Single-Center Cohort.Children (Basel). 2023 Feb 4;10(2):304. doi: 10.3390/children10020304. Children (Basel). 2023. PMID: 36832433 Free PMC article.
-
A Genome-Wide Association Study Meta-Analysis of Alpha Angle Suggests Cam-Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults.Arthritis Rheumatol. 2023 Jun;75(6):900-909. doi: 10.1002/art.42451. Epub 2023 Apr 9. Arthritis Rheumatol. 2023. PMID: 36662418 Free PMC article.
-
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.Mol Genet Genomics. 2023 Mar;298(2):329-342. doi: 10.1007/s00438-022-01980-5. Epub 2022 Dec 1. Mol Genet Genomics. 2023. PMID: 36454308 Free PMC article.
-
Identification of KANSL1 as a novel pathogenic gene for developmental dysplasia of the hip.J Mol Med (Berl). 2022 Aug;100(8):1159-1168. doi: 10.1007/s00109-022-02220-4. Epub 2022 Jun 21. J Mol Med (Berl). 2022. PMID: 35727364
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Research Materials