title: Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review.
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.
authors: Centre for Genetics and Inherited Diseases, Almadinah Almunawwarah, Kingdom of Saudi Arabia.
authors: S
authors: S
authors: Basit
authors: Centre for Genetics and Inherited Diseases, Almadinah Almunawwarah, Kingdom of Saudi Arabia.
authors: M A
authors: MA
authors: Hannan
authors: College of Medicine, Taibah University, Almadinah Almunawwarah, Kingdom of Saudi Arabia.
authors: K I
authors: KI
authors: Khoshhal
mesh_terms: D020219:Chondrogenesis / Q000235:genetics; D003241:Consanguinity; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D023281:Genomics / Q000295:instrumentation / Q000379:methods*; D006618:Hip Dislocation, Congenital / Q000235:genetics* / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007596:Joints / Q000378:metabolism / Q000473:pathology; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide
chemical_list: D016326:Extracellular Matrix Proteins; D018398:Homeodomain Proteins
keywords: DDH; SNP genotyping; exome sequencing; linkage analysis; mutations