CHN1 gene mutation analysis in patients with Duane retraction syndrome
Küçük Resim Yok
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Mosby-Elsevier
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
PURPOSE To investigate CHN1 (chimerin 1) gene mutations in patients with isolated nonsyndromic Duane syndrome and accompanying positive familial history, bilaterality, or various systemic disorders. METHODS Patients with Duane retraction syndrome (DRS) and a positive family history of congenital ocular motility disturbance or bilateral involvement or accompanying any congenital disorder(s) seen consecutively at a single center from 2013 to 2016 were enrolled. All subjects underwent full ophthalmologic examination, including refraction, best-corrected visual acuity, ocular alignment and motility, globe retraction, and biomicroscopic or fundus evaluation. DNA samples were investigated by direct sequencing of the coding regions of the CHN1 gene. RESULTS A total of 30 patients (15 males) were included (mean age, 11.8 +/- 10.4 years; range, 2-45 years): 8 cases presented with bilateral DRS; 22, with unilateral DRS. Family history of ocular motility abnormality was positive in 16 patients. Eleven cases had an additional congenital disorder. In 2 patients, 2 different mutations were detected in the CHN1 gene: p.E313K (c.937G>A) and p.N224S (c.671A>G). CONCLUSIONS CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. Additional genetic studies evaluating chimerin 1 (CHNO and its role in the development of the ocular motor axis are needed to provide new data about these mutations and phenotypic variations.
Açıklama
Anahtar Kelimeler
Kaynak
Journal of Aapos
WoS Q Değeri
Q4
Scopus Q Değeri
Q2
Cilt
21
Sayı
6
