TY - JOUR
T1 - Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
AU - Nadeem, Raheela
AU - Kabir, Firoz
AU - Li, Jiali
AU - Gradstein, Libe
AU - Jiao, Xiaodong
AU - Rauf, Bushra
AU - Naeem, Muhammad Asif
AU - Assir, Muhammad Zaman
AU - Riazuddin, Sheikh
AU - Ayyagari, Radha
AU - Hejtmancik, J. Fielding
AU - Riazuddin, S. Amer
N1 - Publisher Copyright:
© 2020, The Author(s).
PY - 2020/12/1
Y1 - 2020/12/1
N2 - This 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.
AB - This 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.
UR - http://www.scopus.com/inward/record.url?scp=85084448394&partnerID=8YFLogxK
U2 - 10.1038/s41439-020-0100-8
DO - 10.1038/s41439-020-0100-8
M3 - Article
C2 - 32411380
AN - SCOPUS:85084448394
SN - 2054-345X
VL - 7
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 14
ER -