In:
Human Genome Variation, Springer Science and Business Media LLC, Vol. 7, No. 1 ( 2020-05-12)
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
2054-345X
DOI:
10.1038/s41439-020-0100-8
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2020
detail.hit.zdb_id:
2863697-1