title: Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, Sichuan 646000, China ; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan 646000, China.
authors.forename: Qi
authors.identifier: 0000-0003-2547-5945
authors.initials: Q
authors.lastname: Zhou
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan 646000, China ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Jingliang
authors.identifier: 0000-0002-6231-6591
authors.initials: J
authors.lastname: Cheng
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan 646000, China.
authors.forename: Weichan
authors.identifier: 0000-0002-0909-1485
authors.initials: W
authors.lastname: Yang
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan 646000, China.
authors.forename: Mousumi
authors.initials: M
authors.lastname: Tania
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan 646000, China.
authors.forename: Md Asaduzzaman
authors.initials: MA
authors.lastname: Khan
authors.affiliation: Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, Sichuan 646000, China.
authors.forename: Chengxia
authors.initials: C
authors.lastname: Duan
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan 646000, China.
authors.forename: Li
authors.initials: L
authors.lastname: Zhu
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, Sichuan 646000, China.
authors.forename: Hongbin
authors.initials: H
authors.lastname: Lv
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan 646000, China.
authors.forename: Junjiang
authors.identifier: 0000-0002-0708-2200
authors.initials: J
authors.lastname: Fu
mesh_terms: D044466:Asian People; D020746:Calcium Channels, L-Type / Q000235:genetics*; D002681:China; D005190:Family; D005260:Female; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: C113330:CACNA1F protein, human; D020746:Calcium Channels, L-Type