What question did this study set out to answer?

To identify and characterize candidate genes for X-linked retinitis pigmentosa located at the RP3 locus on the short arm of the X chromosome.

January 1, 1995Human Molecular Genetics

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa

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To identify and characterize candidate genes for X-linked retinitis pigmentosa located at the RP3 locus on the short arm of the X chromosome.
Analyzed retinal transcripts and performed linkage and deletion mapping between the CYBB and OTC loci on the X chromosome.
Screened all 10 exons of the candidate gene SRPX using single-strand conformation polymorphism (SSCP) in 34 unrelated XLRP patients.
Performed full-length RT-PCR sequencing of SRPX transcripts in affected members of two RP3 families.
Identified SRPX, a retina-expressed gene encoding a putative membrane protein with short consensus repeat (sushi) domains, completely deleted in a patient with XLRP, chronic granulomatous disease, and McLeod syndrome.
Detected a 75 kb deletion removing exon 1 of SRPX in two brothers from a second XLRP family.
Found no functionally significant SRPX mutations in 34 unrelated XLRP patients or in two RP3 families.

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Implication

Genetic analysis uncovers SRPX deletions in select X-linked retinitis pigmentosa cases, highlighting an uncertain pathogenic role given the absence of point mutations.

Cite This Study

Meindl et al. (1995) studied this question.

synapsesocial.com/papers/6a1748545c24d7ef898d7e03 https://doi.org/10.1093/hmg/4.12.2339

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Implication

Genetic analysis uncovers SRPX deletions in select X-linked retinitis pigmentosa cases, highlighting an uncertain pathogenic role given the absence of point mutations.

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa

Key Points

Discussion

Implication

Cite This Study

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa

Key Points

Discussion

Implication

Cite This Study

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