Journal article
Procollagen II gene mutation in Stickler syndrome
Archives of ophthalmology (1960), Vol.110(11), pp.1589-1593
11/1992
DOI: 10.1001/archopht.1992.01080230089027
PMID: 1444917
Abstract
Four affected members of a family with Stickler syndrome were found to have a single base-pair deletion resulting in a translational frameshift in exon 40 of the procollagen II (COL2A1) gene on chromosome 12. This mutation was not seen in any of five clinically unaffected family members or in any of 15 unrelated control patients. All affected members had distinctly abnormal vitreous syneresis and all had retinal perivascular pigmentation. Retinal detachments occurred in three of the four affected patients. Three of the four affected patients had peripheral cortical "wedge" cataracts, and the fourth had extensive nuclear sclerosis. Abnormalities of the soft palate were found in all four affected patients. All patients reported severe joint pains, and epiphyseal dysplasia was found radiographically in all patients.
Details
- Title: Subtitle
- Procollagen II gene mutation in Stickler syndrome
- Creators
- David M Brown - Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242Brian E NicholsThomas A WeingeistVal C SheffieldAlan E KimuraEdwin M Stone
- Resource Type
- Journal article
- Publication Details
- Archives of ophthalmology (1960), Vol.110(11), pp.1589-1593
- DOI
- 10.1001/archopht.1992.01080230089027
- PMID
- 1444917
- NLM abbreviation
- Arch Ophthalmol
- ISSN
- 0003-9950
- eISSN
- 1538-3601
- Publisher
- American Medical Association; United States
- Grant note
- HG00457 / NHGRI NIH HHS P30HD27748 / NICHD NIH HHS EY08426 / NEI NIH HHS
- Language
- English
- Date published
- 11/1992
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979914902771
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