2005
DOI: 10.1136/jmg.2005.035121
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Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

Abstract: Objective: To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. Methods: Mutation analysis was carried out in a group of 35 unrelated patients with juvenile autosomal recessive retinitis pigmentosa (ARRP), Leber's congenital amaurosis (LCA), or juvenile isolated retinitis pigmentosa (IRP), by denaturing high performance liquid chromatography followed by direct sequencing.Results: All three groups of patients showed typical combinations of ey… Show more

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Cited by 81 publications
(56 citation statements)
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“…Participant 1 is a 34 year old male with a personal history of RP and no known family history who was found to have a previously reported pathogenic variant in the RHO gene, RHO c.1040C>T (p.Pro347Leu). 34 Mutations within the RHO gene are associated with autosomal dominant RP, which is not consistent with this participant's family history. However, de novo dominant mutations have been reported in the RHO gene.…”
Section: Discussionmentioning
confidence: 69%
“…Participant 1 is a 34 year old male with a personal history of RP and no known family history who was found to have a previously reported pathogenic variant in the RHO gene, RHO c.1040C>T (p.Pro347Leu). 34 Mutations within the RHO gene are associated with autosomal dominant RP, which is not consistent with this participant's family history. However, de novo dominant mutations have been reported in the RHO gene.…”
Section: Discussionmentioning
confidence: 69%
“…This is in contrast to all homozygous or compound heterozygous mutations in RPGRIP1 that are linked to inherited photoreceptor dystrophies, such as LCA. 35,36 Interestingly, the presence of clinical manifestations has also been reported in heterozygous carriers of LCA associated RPGRIP1 mutations characterized by reduced dark/light-ERG responses and abnormal ERG amplitudes. 37 Similarly, delayed ERG responses and reduced amplitudes have been also shown in glaucoma.…”
Section: Rpgrip1 and Primary Open Angle Glaucoma L Fernández-martínezmentioning
confidence: 95%
“…199,200 Mutations in RPGRIP1 in humans are associated with RP, 201 cone-rod dystrophy (CORD) 202 and LCA. 203 NPHP4 mutations lead to nephronophthisis (NPHP) and RP, 204 and SDCCAG8 is mutated in BBS and a retinal-renal ciliopathy.…”
mentioning
confidence: 99%