A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

ABSTRACT:

Background

Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia (CHM), a rare X-linked eye disorder arising from sequence alteration of the CHM gene. Herein we report an exonic frameshift variant associated with an mRNA splicing alteration that leads to a CHM hypomorphic allele.

Methods

Total RNA and genomic DNA were extracted from peripheral blood of a patient affected by a mild form of CHM. The CHM gene was analyzed by PCR-based methods and Sanger sequencing.

Results

Besides the known c.1335dup frameshift variant, mRNA analysis revealed a splicing alteration tha

SUBMITTER: Fioretti T 

PROVIDER: S-EPMC7667377 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature