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A new association of PAX6 variation with Juvenile onset open angle glaucoma.

التفاصيل البيبلوغرافية
العنوان: A new association of PAX6 variation with Juvenile onset open angle glaucoma.
المؤلفون: Gupta V; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India. gupta_v20032000@yahoo.com., Somarajan BI; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Gupta S; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Mahalingam K; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Singh A; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Sharma A; Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
المصدر: Journal of human genetics [J Hum Genet] 2023 May; Vol. 68 (5), pp. 355-358. Date of Electronic Publication: 2023 Jan 05.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: 2009- : London : Nature Pub. Group
Original Publication: Tokyo : Springer-Verlag, c1998-
مواضيع طبية MeSH: Glaucoma, Open-Angle*/genetics , Aniridia*/genetics , Glaucoma*/genetics, Humans ; Male ; Child ; Female ; PAX6 Transcription Factor/genetics ; Homeodomain Proteins/genetics ; Mutation ; Pedigree ; Eye Proteins/genetics
مستخلص: Mutations in the PAX6 gene are generally associated with aniridia. We describe a family with Juvenile onset open angle glaucoma (JOAG), where one of the two children had JOAG and the other Juvenile ocular hypertension. Whole exome sequencing was performed for the parents and their two affected children where the proband and her sibling were detected to have a de novo PAX6 gene variant in the absence of aniridia. All previously described gene mutations for glaucoma were looked for in the family. The potential pathogenicity of the identified variants was assessed by determining their frequency in large public exome databases; as well as using the current ACMG guidelines. The same heterozygous variant at NM_000280.6:c.1124 C > A; p. Pro375Gln in the PAX6 gene was detected in the proband and her affected brother. The variant has been described in aniridia patients before and has been shown to cause a weaker DNA binding using functional studies. This report expands the phenotypic spectrum of the PAX6 gene to include Juvenile onset open angle glaucoma.
(© 2023. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)
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معلومات مُعتمدة: ISRM/12(58)/2019 Indian Council of Medical Research (ICMR)
المشرفين على المادة: 0 (PAX6 Transcription Factor)
0 (Homeodomain Proteins)
0 (Eye Proteins)
0 (PAX6 protein, human)
تواريخ الأحداث: Date Created: 20230104 Date Completed: 20230426 Latest Revision: 20230426
رمز التحديث: 20231215
DOI: 10.1038/s10038-022-01115-z
PMID: 36599958
قاعدة البيانات: MEDLINE
الوصف
تدمد:1435-232X
DOI:10.1038/s10038-022-01115-z