Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change
dc.contributor.author | Hiriyanna, Kelaginamane T. | en_US |
dc.contributor.author | Bingham, Eve L. | en_US |
dc.contributor.author | Yashar, Beverly M. | en_US |
dc.contributor.author | Ayyagari, Radha | en_US |
dc.contributor.author | Fishman, Gerald A. | en_US |
dc.contributor.author | Small, Kent W. | en_US |
dc.contributor.author | Weinberg, David V. | en_US |
dc.contributor.author | Weleber, Richard G. | en_US |
dc.contributor.author | Lewis, Richard A. | en_US |
dc.contributor.author | Andreasson, Sten | en_US |
dc.contributor.author | Richards, Julia E. | en_US |
dc.contributor.author | Sieving, Paul A. | en_US |
dc.date.accessioned | 2006-04-19T14:15:00Z | |
dc.date.available | 2006-04-19T14:15:00Z | |
dc.date.issued | 1999-11 | en_US |
dc.identifier.citation | Hiriyanna, Kelaginamane T.; Bingham, Eve L.; Yashar, Beverly M.; Ayyagari, Radha; Fishman, Gerald; Small, Kent W.; Weinberg, David V.; Weleber, Richard G.; Lewis, Richard A.; Andreasson, Sten; Richards, Julia E.; Sieving, Paul A. (1999)."Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change." Human Mutation 14(5): 423-427. <http://hdl.handle.net/2027.42/35178> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/35178 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=10533068&dopt=citation | en_US |
dc.description.abstract | Juvenile retinoschisis is an X-linked recessive disease caused by mutations in the XLRS1 gene. We screened 31 new unrelated patients and families for XLRS1 mutations in addition to previously reported mutations for 60 of our families (Retinoschisis Consortium, Hum Mol Genet 1998;7:1185–1192). Twenty-three different mutations including 12 novel ones were identified in 28 patients. Mutations identified in this study include 19 missense mutations, two nonsense mutations, one intragenic deletion, four microdeletions, one insertion, and one intronic sequence substitution that is likely to result in a splice site defect. Two novel mutations, c.38T→C (L13P) and c.667T→C (C223R), respectively, present the first genetic evidence for the functional significance of the putative leader peptide sequence and for the functional significance at the carboxyl terminal of the XLRS1 protein beyond the discoidin domain. Mutations in 25 of the families were localized to exons 4–6, emphasizing the critical functional significance of the discoidin domain of the XLRS1 protein. Hum Mutat 14:423–427, 1999. © 1999 Wiley-Liss, Inc. | en_US |
dc.format.extent | 197068 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | John Wiley & Sons, Inc. | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan ; Department of Ophthalmology and Visual Sciences, 1000 Wall Street, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105. Fax: (734) 936-7231 | en_US |
dc.contributor.affiliationum | Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Department of Ophthalmology and Visual Sciences, UIC Eye Center, Chicago, Illinois | en_US |
dc.contributor.affiliationother | Jules Stein Eye Institute, University of California, Los Angeles, California | en_US |
dc.contributor.affiliationother | Department of Ophthalmology, Northwestern University, Chicago, Illinois | en_US |
dc.contributor.affiliationother | Departments of Ophthalmology and Molecular and Medical Genetics, Casey Eye Institute, Oregon Health Sciences University, Portland, Oregon | en_US |
dc.contributor.affiliationother | Department of Ophthalmology, Medicine, Pediatrics and Molecular Human Genetics, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas | en_US |
dc.contributor.affiliationother | Department of Ophthalmology, University Hospital, Lund, Sweden | en_US |
dc.identifier.pmid | 10533068 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/35178/1/8_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.