دورية أكاديمية
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.
| العنوان: | Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. |
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| المؤلفون: | Sale MM; Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, NC, USA. msale@wfubmc.edu, Craig JE, Charlesworth JC, FitzGerald LM, Hanson IM, Dickinson JL, Matthews SJ, Heyningen Vv Vv, Fingert JH, Mackey DA |
| المصدر: | Human mutation [Hum Mutat] 2002 Oct; Vol. 20 (4), pp. 322. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York : Wiley-Liss, c1992- |
| مواضيع طبية MeSH: | Cytosine* , Pedigree*, Genetic Variation/*genetics , Homeodomain Proteins/*genetics , Mutation/*genetics , Sequence Deletion/*genetics, Aniridia/genetics ; DNA Mutational Analysis ; Eye Proteins/genetics ; Female ; Humans ; Male ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Phenotype ; Repressor Proteins/genetics ; Transcription Factors/genetics |
| مستخلص: | The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from total aniridia to very mild anterior segment findings. Other findings included partial aniridia, iris stromal hypoplasia, keratitis, cataract, glaucoma, optic disc anomalies and foveal hypoplasia. It appears that independent modifying factors may underlie the variability of the different phenotypic features of the PAX6 mutation. (Copyright 2002 Wiley-Liss, Inc.) |
| معلومات مُعتمدة: | MC_U127527199 United Kingdom MRC_ Medical Research Council; EY10564-02 United States EY NEI NIH HHS |
| المشرفين على المادة: | 0 (Eye Proteins) 0 (Homeodomain Proteins) 0 (PAX6 Transcription Factor) 0 (PAX6 protein, human) 0 (Paired Box Transcription Factors) 0 (Repressor Proteins) 0 (Transcription Factors) 8J337D1HZY (Cytosine) |
| تواريخ الأحداث: | Date Created: 20020927 Date Completed: 20030103 Latest Revision: 20220129 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1002/humu.9066 |
| PMID: | 12325030 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1098-1004 |
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| DOI: | 10.1002/humu.9066 |