Three novel mutations of theRPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa

2001 ◽  
Vol 104 (3) ◽  
pp. 232-238 ◽  
Author(s):  
Akiko Yokoyama ◽  
Futoshi Maruiwa ◽  
Mutsuko Hayakawa ◽  
Atsushi Kanai ◽  
Raf Vervoort ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Novel Mutations ◽  
Gene Exon

scholarly journals Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Zhimeng Zhang ◽  
Hehua Dai ◽  
Lei Wang ◽  
Tianchang Tao ◽  
Jing Xu ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Mutation Screening ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Pathological Myopia ◽  
Nonsense Mutations ◽  
Chinese Families ◽  
Coding Regions ◽  
Genotype Phenotype Correlation ◽  
Male Patients

Abstract Background RP (retinitis pigmentosa) is a group of hereditary retinal degenerative diseases. XLRP is a relatively severe subtype of RP. Thus, it is necessary to identify genes and mutations in patients who present with X-linked retinitis pigmentosa. Methods Genomic DNA was extracted from peripheral blood. The coding regions and intron-exon boundaries of the retinitis pigmentosa GTPase regulator (RPGR) and RP2 genes were amplified by PCR and then sequenced directly. Ophthalmic examinations were performed to identify affected individuals from two families and to characterize the phenotype of the disease. Results Mutation screening demonstrated two novel nonsense mutations (c.1541C > G; p.S514X and c.2833G > T; p.E945X) in the RPGR gene. The clinical manifestation of family 1 with mutations in exon 13 was mild. Genotype-phenotype correlation analysis suggested that patients with mutations close to the downstream region of ORF15 in family 2 manifested an early loss of cone function. Family 2 carried a nonsense mutation in ORF15 that appeared to have a semi-dominant pattern of inheritance. All male patients and two female carriers in family 2 manifested pathological myopia (PM), indicating that there may be a distinctive X-linked genotype-phenotype correlation between RP and PM. Conclusions We identified two novel mutations of the RPGR gene, which broadens the spectrum of RPGR mutations and the phenotypic spectrum of the disease in Chinese families.

scholarly journals Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

2010 ◽  
Vol 31 (5) ◽  
pp. E1361-E1376 ◽  
Author(s):  
Katherine V. Towns ◽  
Athina Kipioti ◽  
Vernon Long ◽  
Martin McKibbin ◽  
Cecilia Maubaret ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Splicing Factor ◽  
Novel Mutations

scholarly journals Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

1999 ◽  
Vol 7 (6) ◽  
pp. 687-694 ◽  
Author(s):  
Maria Giuseppina Miano ◽  
Francesco Testa ◽  
Maria Strazzullo ◽  
Mariajose Trujillo ◽  
Carmelilia De Bernardo ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Mutation Analysis ◽  
Novel Mutations

Identification of Novel Mutations in the Ortholog ofDrosophilaEyes Shut Gene (EYS) Causing Autosomal Recessive Retinitis Pigmentosa

2010 ◽  
Vol 51 (8) ◽  
pp. 4266 ◽  
Author(s):  
Mai M. Abd El-Aziz ◽  
Ciara A. O'Driscoll ◽  
Rebecca S. Kaye ◽  
Isabel Barragan ◽  
Mohamed F. El-Ashry ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Novel Mutations

Three novel mutations (P215L, T289P, and 3811-2 A?G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families

2000 ◽  
Vol 16 (1) ◽  
pp. 95-96 ◽  
Author(s):  
Mar�a Martinez-Gimeno ◽  
Mar�a Jos� Trujillo ◽  
Isabel Lorda ◽  
Ascensi�n Gimenez ◽  
Mar�a Teresa Calvo ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Novel Mutations ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

2001 ◽  
Vol 432 (3-4) ◽  
pp. 79-82
Author(s):  
Alessandro De Luca ◽  
Isabella Torrente ◽  
Massimo Mangino ◽  
Rita Danesi ◽  
Bruno Dallapiccola ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Novel Mutations ◽  
Truncated Protein

scholarly journals Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Zilin Zhong ◽  
Min Yan ◽  
Wan Sun ◽  
Zehua Wu ◽  
Liyun Han ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Chinese Population ◽  
Sanger Sequencing ◽  
Autosomal Dominant ◽  
Photoreceptor Cells ◽  
Eye Diseases ◽  
Novel Mutations ◽  
Whole Exome ◽  
Selective Death ◽  
Exon 11

Abstract Retinitis pigmentosa (RP) is a heterogeneous set of hereditary eye diseases, characterized by selective death of photoreceptor cells in the retina, resulting in progressive visual impairment. Approximately 20–40% of RP cases are autosomal dominant RP (ADRP). In this study, a Chinese ADRP family previously localized to the region between D1S2819 and D1S2635 was sequenced via whole-exome sequencing and a variant c.1345C > G (p.R449G) was identified in PRPF3. The Sanger sequencing was performed in probands of additional 95 Chinese ADRP families to investigate the contribution of PRPF3 to ADRP in Chinese population and another variant c.1532A > C (p.H511P) was detected in one family. These two variants, co-segregate with RP in two families respectively and both variants are predicted to be pathological. This is the first report about the spectrum of PRPF3 mutations in Chinese population, leading to the identification of two novel PRPF3 mutations. Only three clustered mutations in PRPF3 have been identified so far in several populations and all are in exon 11. Our study expands the spectrum of PRPF3 mutations in RP. We also demonstrate that PRPF3 mutations are responsible for 2.08% of ADRP families in this cohort indicating that PRPF3 mutations might be relatively rare in Chinese ADRP patients.

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