دورية أكاديمية
أعرض في EDS

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.

التفاصيل البيبلوغرافية
العنوان: Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.
المؤلفون: Palayil I; Arasan Eye Hospital, Erode, India., Priya SG; Arasan Eye Hospital, Erode, India., Sivan NVS; Arasan Eye Hospital, Erode, India., Madhivanan N; Arasan Eye Hospital, Erode, India., Venkatachalam PS; Arasan Eye Hospital, Erode, India., Jagadeesan M; Dualhelix Genetic Diagnostics, Chennai, Tamil Nadu, India.
المصدر: Indian journal of ophthalmology [Indian J Ophthalmol] 2018 Feb; Vol. 66 (2), pp. 229-232.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print Cited Medium: Internet ISSN: 1998-3689 (Electronic) Linking ISSN: 03014738 NLM ISO Abbreviation: Indian J Ophthalmol Subsets: MEDLINE
أسماء مطبوعة: Publication: Mumbai : Medknow Publications
Original Publication: Bombay : All-India Ophthalmological Society
مواضيع طبية MeSH: Family* , Frameshift Mutation*, Aniridia/*genetics , DNA/*genetics , PAX6 Transcription Factor/*genetics, Adult ; Aniridia/metabolism ; Child ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; Genotype ; Humans ; India ; Male ; PAX6 Transcription Factor/metabolism ; Pedigree ; Phenotype
مستخلص: Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management.
Methods: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection.
Results: The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis. Two affected siblings, a brother and a sister, had aniridia, nystagmus, ptosis, increase in central corneal thickness, cataract, and foveal hypoplasia. The sister had features of glaucoma. The offspring of the sister had all the features except cataract and rise in intraocular pressure. Mutation screening of PAX6 gene helped in identifying a novel heterozygous pathogenic variation g. 31801757dupG (c. 216-19dupG) that resulted in a frameshift mutation that extended into exon 7. Based on the evaluation and diagnostic testing, the family was clinically managed along with genetic counselling.
Conclusion: Molecular diagnostic testing helps in genetic counseling of the family with aniridia to understand the nature of the disease and detection of complications early for better management.
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المشرفين على المادة: 0 (PAX6 Transcription Factor)
0 (PAX6 protein, human)
9007-49-2 (DNA)
تواريخ الأحداث: Date Created: 20180131 Date Completed: 20180529 Latest Revision: 20181113
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC5819101
DOI: 10.4103/ijo.IJO_311_17
PMID: 29380764
قاعدة البيانات: MEDLINE
الوصف
تدمد:1998-3689
DOI:10.4103/ijo.IJO_311_17