Literature DB >> 26842108

Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review.

S Basit1, M A Hannan1, K I Khoshhal2.   

Abstract

Developmental dysplasia of the hip (DDH) is one of the most common skeletal anomalies. DDH encompasses a spectrum of the disorder ranging from minor acetabular dysplasia to irreducible dislocation, which may lead to premature arthritis in later life. Involvement of genetic factors underlying DDH became evident when several studies reported chromosomal loci linked to DDH in families with multiple affected individuals. Moreover, using association studies, variants in genes involved in chondrogenesis and joint formation have been shown to be associated with DDH. At least, one study identified a pathogenic variant in the chemokine receptor gene in DDH. No genetic analysis has been reported or carried out in DDH patients from the Middle East. Here, we review the literature related to genetics of DDH and emphasized the usefulness of new generation technologies in identifying genetic variants underlying DDH in consanguineous families.
© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  DDH; SNP genotyping; exome sequencing; linkage analysis; mutations

Mesh:

Substances:

Year:  2016        PMID: 26842108     DOI: 10.1111/cge.12755

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Secondary (Late) Developmental Dysplasia of the Hip with Displacement: From Case Studies to a Proposition for a Modified Diagnostic Path.

Authors:  Jacek Dygut; Jerzy Sułko; Ibeth Guevara-Lora; Monika Piwowar
Journal:  Diagnostics (Basel)       Date:  2022-06-15

2.  The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip.

Authors:  Evren Gumus; Ebru Temiz; Baran Sarikaya; Ozgur Yuksekdag; Serkan Sipahioglu; Ataman Gonel
Journal:  Indian J Orthop       Date:  2020-08-29       Impact factor: 1.251

3.  Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.

Authors:  Sulman Basit; Alia M Albalawi; Essa Alharby; Khalid I Khoshhal
Journal:  BMC Med Genet       Date:  2017-03-21       Impact factor: 2.103

Review 4.  Developmental dysplasia of the hip: a systematic literature review of the genes related with its occurrence.

Authors:  Ioannis Gkiatas; Anastasia Boptsi; Dimitra Tserga; Ioannis Gelalis; Dimitrios Kosmas; Emilios Pakos
Journal:  EFORT Open Rev       Date:  2019-10-01
  4 in total

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