PURPOSE: 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.
PURPOSE: 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.
Authors: Mary C Whitman; Silvio Alessandro Di Gioia; Wai-Man Chan; Alon Gelber; Brandon M Pratt; Jessica L Bell; Thomas E Collins; James A Knowles; Christopher Armoskus; Michele Pato; Carlos Pato; Sherin Shaaban; Sandra Staffieri; Sarah MacKinnon; Gail D E Maconachie; James E Elder; Elias I Traboulsi; Irene Gottlob; David A Mackey; David G Hunter; Elizabeth C Engle Journal: Invest Ophthalmol Vis Sci Date: 2020-08-03 Impact factor: 4.799