A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

ABSTRACT: We report the study of a large American family displaying autosomal dominant retinitis pigmentosa with reduced penetrance, a form of hereditary retinal degeneration. Although the inheritance pattern and previous linkage mapping pointed to the involvement of the PRPF31 gene, extensive screening of all its exons and their boundaries failed in the past to reveal any mutation. In this work, we sequenced the entire PRPF31 genomic region by both the classical Sanger method and ultrahigh throughput (UHT) sequencing. Among the many variants identified, a single-base substitution (c.1374+654C>G) located deep within intron 13 and inside a repetitive DNA element was common to all patients and obligate asymptomatic carriers. This change created a new splice donor site leading to the synthesis of two m

SUBMITTER: Rio Frio T 

PROVIDER: S-EPMC2753193 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature