Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. The prevalence of RP and the mutation spectrum vary across populations. Hispanic people account for approximately 17% of the United States population, and the genetic etiologies of RP of this ethnic group still remain not well defined. Utilizing next-generation sequencing (NGS), we screened mutations in known retinal disease-causing genes in an RP cohort of 35 unrelated Hispanic probands from the Miami area. We achieved a solving rate of 66% and identified 15 novel putative pathogenic mutations, including a frequent founder mutation disrupting PRPF31 splicing. Our data show that the mutation spectrum of Hispanic RP receives a significant impact from disease-causing alleles of Spanish origin and may also contain population-specific alleles.
College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.|Institute of Life Sciences, Hangzhou Normal University, Hangzhou, Zhejiang, China.
Qi
Q
Zhang
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States.|Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
Mingchu
M
Xu
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, United States.
Jennifer D
JD
Verriotto
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States.|Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
Yumei
Y
Li
Institute of Life Sciences, Hangzhou Normal University, Hangzhou, Zhejiang, China.
Hui
H
Wang
College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.|Institute of Life Sciences, Hangzhou Normal University, Hangzhou, Zhejiang, China.
Lin
L
Gan
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, United States.
Byron L
BL
Lam
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States.|Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.|Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, Texas, USA.|The Verna and Marrs Mclean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas, USA.|Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, USA.
Rui
R
Chen
D000483:Alleles; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D012326:RNA Splicing / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics*
D005136:Eye Proteins