title: Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population.
abstract: Duane retraction syndrome (DRS) is a congenital eye movement disorder characterized most typically by partial or complete failure of abduction and narrowing of palpebral fissure with globe retraction on adduction. Recently mutations of the SALL4 gene on chromosome 20 have been linked to DRS associated with radial forearm malformations (Okihiro syndrome). In this prospective, non-interventional study we screened for SALL4 mutations in 72 patients clinically diagnosed as having isolated DRS or DRS associated syndromes. All four exonic and the neighboring intronic regions of SALL4 gene were amplified by sixteen sets of primers using polymerase chain reaction and were subjected to bi-directional sequencing and BLAST analysis. No genetic variations were detected in the coding region and in the neighboring intronic regions of the SALL4 gene suggesting an alternative mechanism in the pathogenesis of these disorders in the South Indian population.
authors.affiliation: Aravind Medical Research Foundation, Department of Genetics, Aravind Eye Care System, Madurai, India. lalan.mku@gmail.com
authors.forename: Lalan Kumar
authors.initials: LK
authors.lastname: Arya
authors.forename: Anand B
authors.initials: AB
authors.lastname: Kumar
authors.forename: Shashikant
authors.initials: S
authors.lastname: Shetty
authors.forename: Vijayalakshmi
authors.initials: V
authors.lastname: Perumalsamy
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004370:Duane Retraction Syndrome / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D014644:Genetic Variation; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D017931:DNA Primers; C472575:SALL4 protein, human; D014157:Transcription Factors