Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.
OBJECTIVE
To describe a macrodeletion spanning entire RCC1-like doman in the RPGR gene in one Japanese family with X-linked retinitis pigmentosa (XLRP).


METHODS
Clinical ophthalmologic examinations were performed and genomic DNA was extracted from blood samples. Genomic DNA was analyzed by Southern blot and PCR amplification with specific primers.


RESULTS
Patients had severe symptoms with early onset and rapid deterioration. PCR amplification and Southern blot analysis revealed the absence of the 5' half of the RPGR gene. The deletion was confirmed and characterized by designing flanking PCR primers: the deletion start point was located 80 bp upstream of the translation start site in exon 1, the end point was 42 bp downstream of exon 11.


CONCLUSIONS
This 30 kb deletion contains the exons coding for the RCC1-like domain of RPGR. It is the first report of a macrodeletion that spans the entire RCC1-like domain of RPGR in X-linked retinitis pigmentosa patients, and suggests that loss of function of this domain disrupts the function of RPGR in human retina.
Jin
Zi-Bing
ZB
Department of Ophthalmology, Miyazaki Medical College, University of Miyazaki, Miyazaki, Japan.
Liu
Xiao-Qiang
XQ
Uchida
Asuka
A
Vervoort
Raf
R
Morishita
Kazuhiro
K
Hayakawa
Mutsuko
M
Murakami
Akira
A
Matsumoto
Naomichi
N
Niikawa
Norio
N
Nao-i
Nobuhisa
N
D000328:Adult; D017668:Age of Onset; D000368:Aged; D015139:Blotting, Southern; D018797:Cell Cycle Proteins / Q000235:genetics*; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014794:Visual Fields
D018797:Cell Cycle Proteins; D005136:Eye Proteins; D020662:Guanine Nucleotide Exchange Factors; D009687:Nuclear Proteins; C062521:RCC1 protein, human; C099929:RPGR protein, human