Abstract:
PURPOSE:To identify a mutation in the PRPF31 gene in a family (Family K) with autosomal dominant retinitis pigmentosa (adRP) linked to 19q13.4 (RP11) and to find the frequency of mutations in the PRPF31 gene among Japanese families with adRP. METHODS:Genomic DNA specimens were prepared from five symptomatic and two asymptomatic members of Family K and an additional 39 patients of 39 unrelated families with adRP. Coding regions of the PRPF31 gene were amplified by polymerase chain reaction. The amplicons were analyzed by a direct sequencing method. RESULTS:All seven family members had a heterozygous c.1142delG mutation in the PRPF31 gene, which was identical to the mutation previously reported in a different Japanese family. No other mutation was found in the PRPF31 gene among the 39 additional patients with adRP. CONCLUSION:Although the frequency of mutations in the PRPF31 gene is about 2.5% in Japanese families with adRP, it is possible that c.1142delG is a common mutation among Japanese patients with adRP associated with mutations in the PRPF31 gene.
journal_name
Jpn J Ophthalmoljournal_title
Japanese journal of ophthalmologyauthors
Taira K,Nakazawa M,Sato Mdoi
10.1007/s10384-006-0394-1subject
Has Abstractpub_date
2007-01-01 00:00:00pages
45-8issue
1eissn
0021-5155issn
1613-2246journal_volume
51pub_type
杂志文章abstract::A 76-year-old Japanese woman had suffered from fatigue, weight loss, and cutaneous hyperpigmentation at the age of 38 years and was diagnosed as having tuberculous Addison's disease. Since then, corticosteroids had been administered effectively as hormonal replacement. At the age of 75 years, the patient presented wit...
journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0021-5155(98)00024-0
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journal_title:Japanese journal of ophthalmology
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
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journal_title:Japanese journal of ophthalmology
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0021-5155(01)00322-7
更新日期:2001-05-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
更新日期:1982-01-01 00:00:00
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journal_title:Japanese journal of ophthalmology
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pub_type: 杂志文章
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更新日期:2012-11-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:10.1007/s10384-004-0163-y
更新日期:2005-03-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
更新日期:1987-01-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:10.1007/s10384-006-0400-7
更新日期:2007-03-01 00:00:00
abstract:BACKGROUND:In this report of two Okinawan patients with Beals syndrome and accompanying ocular complications, the symptoms of Beals syndrome and Marfan syndrome are compared. The etiology of these two syndromes is considered in relation to fibrillin. CASES:Case 1 was a 5-year-old boy who showed blue sclera and bilater...
journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:10.1007/s10384-004-0106-7
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journal_title:Japanese journal of ophthalmology
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pub_type: 杂志文章
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更新日期:2012-07-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0021-5155(00)00359-2
更新日期:2001-03-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
更新日期:1991-01-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
更新日期:1986-01-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
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更新日期:2003-09-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0021-5155(01)00320-3
更新日期:2001-05-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:10.1007/s10384-007-0455-0
更新日期:2007-09-01 00:00:00
abstract::Purpose: A young patient of ophthalmoplegic migraine with recurrent oculomotor nerve palsy is reported.Case: A 4-year-old girl came to our hospital complaining of recurrent left ptosis and double vision which completely resolved within a few days. She had a history of drowsiness after vomiting every two months. Left o...
journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0021-5155(00)00233-1
更新日期:2000-09-01 00:00:00