Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome (original) (raw)

Duane Retraction Syndrome Associated with a Small X Chromosome Deletion

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2016

This report describes the genetic evaluation of a girl with bilateral Duane retraction syndrome (DRS), cleft palate, and mildly reduced hearing who was found by high-resolution array-comparative genomic hybridization (array CGH) to have a chromosomal anomaly involving a single gene known to be involved in muscle development. The study was approved by the Institutional Review Board of the

Two Novel CHN1 Mutations in 2 Families With Duane Retraction Syndrome

Archives of …, 2011

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Duane Syndrome in the Setting of Chromosomal Duplications

American Journal of Ophthalmology, 2010

To describe the clinical findings in 3 patients with Duane syndrome and 3 different chromosomal duplications that may indicate the location of genes involved in the pathogenesis of this ocular motility disorder. • DESIGN: Observational case series. • METHODS: SETTING: Clinical practice. PATIENT OR STUDY POPULATION: Three patients with Duane syndrome and chromosomal duplications from the clinical practice of 1 of the authors. OBSERVATION PROCEDURES: Chart review and retrieval of clinical data and results of pertinent clinical tests, in this case chromosomal studies. MAIN OUTCOME MEASURE: Reporting of details of clinical findings and duplicated chromosomal regions. • RESULTS: Two patients had unilateral type I Duane syndrome and 1 had bilateral type I Duane syndrome. Two had cognitive delay, and all 3 had other systemic abnormalities, including a variety of congenital malformations. The chromosomal abnormalities that were detected using microarray analysis were 2q13(RP11-20G1,RP11-461N11) ؋ 3, 10q24.2q26.3(101,532,585-135,284, 169) ؋ 3, 20q13.12 (44,796,613-44,945, 818) ؋ 3, and 22q11.1q11.22(RP11-701M12, RP11-71G19) ؋ 3. • CONCLUSIONS: Patients with Duane syndrome and associated congenital malformations or developmental delay should be evaluated for the presence of underlying chromosomal duplications. The regions of chromosomes 2, 10, and 22 that we report may harbor genes involved in the pathogenesis of Duane syndrome.

Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31

The American Journal of Human Genetics, 1999

Duane retraction syndrome (DRS) is a congenital eyemovement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, restricted adduction, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. DRS has a prevalence of ∼0.1% in the general population and accounts for 5% of all strabismus cases. Undiagnosed DRS in children can lead to amblyopia, a permanent uncorrectable loss of vision. A large family with autosomal dominant DRS was examined and tested for genetic linkage. After exclusion of candidate regions previously associated with DRS, a genomewide search with highly polymorphic microsatellite markers was performed, and significant evidence for linkage was obtained at chromosome 2q31 (D2S2314 maximum LOD score 11.73 at maximum recombination fraction .0). Haplotype analysis places the affected gene in a 17.8-cM region between the markers D2S2330 and D2S364. No recombinants were seen with markers between these two loci. The linked region contains the homeobox D gene cluster. Three of the genes within this cluster, known to participate in hindbrain development, were sequenced in affected and control individuals. Coding sequences for these genes were normal or had genetic alterations unlikely to be responsible for the DRS phenotype. Identifying the gene responsible for DRS may lead to an improved understanding of early cranial-nerve development.