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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003617naa a2200505 4500
001oai:DiVA.org:su-51464
003SwePub
008110110s2010 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-514642 URI
0247 a https://doi.org/10.1167/iovs.10-57972 DOI
040 a (SwePub)su
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Littink, Karin W.4 aut
2451 0a Homozygosity Mapping in Patients with Cone-Rod Dystrophy :b Novel Mutations and Clinical Characterizations
264 1b Association for Research in Vision and Ophthalmology (ARVO),c 2010
338 a print2 rdacarrier
500 a authorCount :18
520 a PURPOSE. To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients. METHODS. One hundred thirty-nine patients with diagnosed CRD were recruited. Ninety of them were screened for known mutations in ABCA4, and those carrying one or two mutations were excluded from further research. Genome-wide homozygosity mapping was performed in the remaining 108. Known genes associated with autosomal recessive retinal dystrophies located within a homozygous region were screened for mutations. Patients in whom a mutation was detected underwent further ophthalmic examination. RESULTS. Homozygous sequence variants were identified in eight CRD families, six of which were nonconsanguineous. The variants were detected in the following six genes: ABCA4, CABP4, CERKL, EYS, KCNV2, and PROM1. Patients carrying mutations in ABCA4, CERKL, and PROM1 had typical CRD symptoms, but a variety of retinal appearances on funduscopy, optical coherence tomography, and autofluorescence imaging. CONCLUSIONS. Homozygosity mapping led to the identification of new mutations in consanguineous and nonconsanguineous patients with retinal dystrophy. Detailed clinical characterization revealed a variety of retinal appearances, ranging from nearly normal to extensive retinal remodeling, retinal thinning, and debris accumulation. Although CRD was initially diagnosed in all patients, the molecular findings led to a reappraisal of the diagnosis in patients carrying mutations in EYS, CABP4, and KCNV2.
653 a NATURAL SCIENCES
653 a NATURVETENSKAP
7001 a Koenekoop, Robert K.4 aut
7001 a van den Born, L. Ingeborgh4 aut
7001 a Collin, Rob W. J.4 aut
7001 a Moruz, Luminitau Stockholms universitet,Institutionen för biokemi och biofysik4 aut0 (Swepub:su)lumo6675
7001 a Veltman, Joris A.4 aut
7001 a Roosing, Susanne4 aut
7001 a Zonneveld, Marijke N.4 aut
7001 a Omar, Amer4 aut
7001 a Darvish, Mahshad4 aut
7001 a Lopez, Irma4 aut
7001 a Kroes, Hester Y.4 aut
7001 a van Genderen, Maria M.4 aut
7001 a Hoyng, Carel B.4 aut
7001 a Rohrschneider, Klaus4 aut
7001 a van Schooneveld, Mary J.4 aut
7001 a Cremers, Frans P. M.4 aut
7001 a den Hollander, Anneke I.4 aut
7102 a Stockholms universitetb Institutionen för biokemi och biofysik4 org
7730 t Investigative Ophthalmology and Visual Scienced : Association for Research in Vision and Ophthalmology (ARVO)g 51:11, s. 5943-5951q 51:11<5943-5951x 0146-0404x 1552-5783
8564 u https://europepmc.org/articles/pmc3061516?pdf=render
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-51464
8564 8u https://doi.org/10.1167/iovs.10-5797

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