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Article

A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.

Molecular vision - 18 Apr 2006

Abu-Safieh Leen, Vithana Eranga N, Mantel Irmela, Holder Graham E, Pelosini Lucia, Bird Alan C, Bhattacharya Shomi S

Abstract excerpt

PURPOSE: To report a large deletion that encompasses more than 90% of PRPF31 gene and two other neighboring genes in their entirety in an adRP pedigree that appears to show only the typical clinical features of retinitis pigmentosa. METHODS: To identify PRPF31 mutation in a dominant RP family (ADRP2) previously linked to the RP11 locus, the 14 exons of PRPF31 were screened for mutations by direct sequencing. To...

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Source

Identifiers

PMID: 16636657

Genes

PRPF31
NDUFA3
OSCAR
TFPT

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A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.PMID 16636657Read ↗

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