Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing
Joint Authors
Khan, Md. Asaduzzaman
Zhou, Qi
Cheng, Jingliang
Yang, Weichan
Tania, Mousumi
Wang, Hui
Duan, Chengxia
Zhu, Li
Chen, Rui
Lv, Hongbin
Fu, Junjiang
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-05-17
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Background.
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease, which is clinically and genetically heterogeneous, and the inheritance pattern is complex.
In this study, we have intended to study the possible association of certain genes with X-linked RP (XLRP) in a Chinese family.
Methods.
A Chinese family with RP was recruited, and a total of seven individuals were enrolled in this genetic study.
Genomic DNA was isolated from peripheral leukocytes, and used for the next generation sequencing (NGS).
Results.
The affected individual presented the clinical signs of XLRP.
A heterozygous missense mutation (c.1555C>T, p.R519W) was identified by NGS in exon 13 of the CACNA1F gene on X chromosome, and was confirmed by Sanger sequencing.
It showed perfect cosegregation with the disease in the family.
The mutation at this position in the CACNA1F gene of RP was found novel by database searching.
Conclusion.
By using NGS, we have found a novel heterozygous missense mutation (c.1555C>T, p.R519W) in CACNA1F gene, which is probably associated with XLRP.
The findings might provide new insights into the cause and diagnosis of RP, and have implications for genetic counseling and clinical management in this family.
American Psychological Association (APA)
Zhou, Qi& Cheng, Jingliang& Yang, Weichan& Tania, Mousumi& Wang, Hui& Khan, Md. Asaduzzaman…[et al.]. 2015. Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing. BioMed Research International،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1057192
Modern Language Association (MLA)
Zhou, Qi…[et al.]. Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing. BioMed Research International No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1057192
American Medical Association (AMA)
Zhou, Qi& Cheng, Jingliang& Yang, Weichan& Tania, Mousumi& Wang, Hui& Khan, Md. Asaduzzaman…[et al.]. Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1057192
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1057192