Phenotype in a Swedish family with X-linked retinitis pigmentosa caused by a novel splice defect in the RPGR gene

Bauer, S (författare)

Fujita, R (författare)

Buraczynska, M (författare)

Abrahamson, Magnus (författare): Lund University,Lunds universitet,Avdelningen för klinisk kemi och farmakologi,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Chemistry and Pharmacology,Department of Laboratory Medicine,Faculty of Medicine

Ehinger, B (författare)

Wu, W (författare)

Falls, TJ (författare)

Andreasson, S (författare)

Swaroop, A (författare)

(creator_code:org_t)

1998
1998
Engelska.
Ingår i: Investigative Ophthalmology & Visual Science. - 1552-5783. ; 39:12, s. 2470-2474

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Abstract Ämnesord

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PURPOSE: To assess the clinical phenotype in a Swedish family with X- linked retinitis pigmentosa (XLRP) resulting from a novel splice defect in the RPGR gene. METHODS: RPGR mutation analysis was performed in one family with XLRP, and several individuals from the family were examined clinically. RESULTS: The causative mutation in the family was demonstrated to be a single base-pair change at the splice donor site in intron 7 that resulted in skipping of the complete exon 7 in the mature RPGR transcript. The aberrant mRNA is predicted to produce an RPGR protein with an in-frame deletion of 53 amino acids, corresponding to an RCC1-homology repeat. Clinical studies that included ophthalmological examination and full-field electroretinography showed that this splice mutation resulted in a comparatively less severe form of RP. CONCLUSIONS: Correlation of a causative RPGR genotype with clinical findings in hemizygotes and carrier heterozygotes is an important step toward predictive diagnosis and should assist in the development of gene-based therapies in the future.

Av författaren/redakt...: Bauer, S; Fujita, R; Buraczynska, M; Abrahamson, Magn ...; Ehinger, B; Wu, W; visa fler...; Falls, TJ; Andreasson, S; Swaroop, A; visa färre...

Om ämnet

MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Oftalmologi

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