Author:
Nadeem Raheela,Kabir Firoz,Li Jiali,Gradstein Libe,Jiao Xiaodong,Rauf Bushra,Naeem Muhammad Asif,Assir Muhammad Zaman,Riazuddin Sheikh,Ayyagari Radha,Hejtmancik J. Fielding,Riazuddin S. Amer
Abstract
AbstractThis study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis and Sanger sequencing resulted in the identification of a previously reported nonsense mutation, c.847C > T, in exon 5 of CERKL in one family and a novel four-base pair deletion in exon 4 of RP1, c.delAGAA4218_4221, leading to premature protein termination in the second family. Here, we report two RP-causing mutations extending the genetic heterogeneity of the disease.
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Reference12 articles.
1. Hamel, C. Retinitis pigmentosa. Orphanet J. Rare Dis. 1, 40 (2006).
2. Hartong, D. T., Berson, E. L. & Dryja, T. P. Retinitis pigmentosa. Lancet 368, 1795–1809 (2006).
3. Khan, S. Y. et al. FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. Nat. Commun. 7, 10953 (2016).
4. Lathrop, G. M. & Lalouel, J. M. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36, 460–465 (1984).
5. Schaffer, A. A., Gupta, S. K., Shriram, K. & Cottingham, R. W. Avoiding recomputation in genetic linkage analysis. Hum. Hered. 44, 225–237 (1994).
Cited by
2 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献