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http://purl.uniprot.org/citations/26968735http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26968735http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26968735http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

Mutations in the ciliary transporter gene IFT140, usually associated with a severe syndromic ciliopathy, may also cause isolated retinal dystrophy. A series of patients with nonsyndromic retinitis pigmentosa (RP) due to IFT140 was investigated in this study.

Methods

Five probands and available affected family members underwent detailed phenotyping including retinal imaging and electrophysiology. Whole exome sequencing was performed on two probands, a targeted sequencing panel of 176 retinal genes on a further two, and whole genome sequencing on the fifth. Missense mutations of IFT140 were further investigated in vitro using transient plasmid transfection of hTERT-RPE1 cells.

Results

Eight affected patients from five families had preserved visual acuity until at least the second decade; all had normal development without skeletal manifestations or renal failure at age 13 to 67 years (mean, 42 years; median, 44.5 years). Bi-allelic mutations in IFT140 were identified in all families including two novel mutations: c.2815T > C (p.Ser939Pro) and c.1422_23insAA (p.Arg475Asnfs*14). Expression studies demonstrated a significantly reduced number of cells showing localization of mutant IFT140 with the basal body for two nonsyndromic mutations and two syndromic mutations compared with the wild type and a polymorphism.

Conclusions

This study highlights the phenotype of nonsyndromic RP due to mutations in IFT140 with milder retinal dystrophy than that associated with the syndromic disease."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.org/dc/terms/identifier"doi:10.1167/iovs.15-17976"xsd:string
http://purl.uniprot.org/citations/26968735http://purl.org/dc/terms/identifier"doi:10.1167/iovs.15-17976"xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Sarkar A."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Sarkar A."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Perrault I."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Perrault I."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Webster A.R."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Webster A.R."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Rozet J.M."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Rozet J.M."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Plagnol V."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Plagnol V."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Raymond F.L."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Raymond F.L."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Arno G."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Arno G."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Holder G.E."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Holder G.E."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Hull S."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Hull S."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Moore A.T."xsd:string
http://purl.uniprot.org/citations/26968735http://purl.uniprot.org/core/author"Moore A.T."xsd:string
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