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Genetics of developmental dysplasia of the hip.
European Journal of Medical Genetics ( IF 1.6 ) Pub Date : 2020-06-12 , DOI: 10.1016/j.ejmg.2020.103990
Stefan Harsanyi 1 , Radoslav Zamborsky 2 , Milan Kokavec 2 , Lubos Danisovic 1
Affiliation  

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.



中文翻译:

髋关节发育不良的遗传学。

在过去的十年中,分子分析和测序技术的进步使研究人员能够更彻底地研究髋关节发育不良(DDH)。某些染色体,基因,基因座和多态性与这种疾病的严重程度有关。广泛的体征和症状取决于孤立的或全身的表现。孤立病例的表型从轻度韧带松弛到半脱位,直至股骨头完全脱位。系统性表现与各种形式的骨骼发育不良和其他以明显的遗传畸变为特征的畸形有关。为了揭示DDH遗传的背景,多项研究集中于大样本,重点是基因型,表型和连续临床检查之间的相关性。已在患者中观察到并记录的病因危险因素包括遗传,环境和机械因素,这些因素对这种疾病的家族性或非家族性发生和表型变异有重大贡献。仍然,DDH的多因素病因和发病机理尚未充分阐明,解释或理解。结缔组织的形成,成骨作用,软骨形成以及所有其他受影响的途径以及它们各个元素功能的变化都有助于在发育中的人体中形成​​病理学。这篇综述文章介绍了已知的DDH相关基因,其产物和功能特性的最新列表。显着促成该疾病的家族性或非家族性发生以及表型变异。仍然,DDH的多因素病因和发病机理尚未充分阐明,解释或理解。结缔组织的形成,成骨作用,软骨形成以及所有其他受影响的途径以及它们各个元素功能的变化都有助于在发育中的人体中形成​​病理学。这篇综述文章介绍了已知的DDH相关基因,其产物和功能特性的最新列表。显着促成该疾病的家族性或非家族性发生以及表型变异。仍然,DDH的多因素病因和发病机理尚未充分阐明,解释或理解。结缔组织的形成,成骨作用,软骨形成以及所有其他受影响的途径以及它们各个元素功能的变化都有助于在发育中的人体中形成​​病理学。这篇综述文章介绍了已知的DDH相关基因,其产物和功能特性的最新列表。成骨,软骨形成和所有其他受影响的途径以及其各个元素功能的变化都有助于在发育中的人体中形成​​病理学。这篇综述文章介绍了已知的DDH相关基因,其产物和功能特性的最新列表。成骨,软骨形成和所有其他受影响的途径以及其各个元素功能的变化都有助于在发育中的人体中形成​​病理学。这篇综述文章介绍了已知的DDH相关基因,其产物和功能特性的最新列表。

更新日期:2020-06-12
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