دورية أكاديمية
Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families.
العنوان: | Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families. |
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المؤلفون: | Hao XL; Senior Department of Opthalmology, the Third Medical Center of Chinese PLA General Hospital, Beijing, 100039, China., Chen R; Bolin Eye Care Group, Beijing, 100098, China., Liu W; Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya, 572000, China., Hou BK; Senior Department of Opthalmology, the Third Medical Center of Chinese PLA General Hospital, Beijing, 100039, China., Qu LH; Department of Ophthalmology, the 74th Army Group Hospital, Guangzhou, 510318, China., Li ZH; Senior Department of Opthalmology, the Third Medical Center of Chinese PLA General Hospital, Beijing, 100039, China., Wang DJ; Senior Department of Opthalmology, the Third Medical Center of Chinese PLA General Hospital, Beijing, 100039, China., Jin X; Senior Department of Opthalmology, the Third Medical Center of Chinese PLA General Hospital, Beijing, 100039, China. 13910195023@sina.cn., Huang HB; Senior Department of Opthalmology, the Third Medical Center of Chinese PLA General Hospital, Beijing, 100039, China. huanghoubin@hotmail.com. |
المصدر: | Current medical science [Curr Med Sci] 2024 Aug; Vol. 44 (4), pp. 820-826. Date of Electronic Publication: 2024 Jul 05. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Huazhong University of Science and Technology Country of Publication: China NLM ID: 101729993 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2523-899X (Electronic) Linking ISSN: 2523899X NLM ISO Abbreviation: Curr Med Sci Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: Wuhan : Huazhong University of Science and Technology, [2018]- |
مواضيع طبية MeSH: | PAX6 Transcription Factor*/genetics , Aniridia*/genetics , Haplotypes*/genetics , Phenotype* , Pedigree*, Humans ; Male ; Female ; Adult ; Asian People/genetics ; Middle Aged ; Frameshift Mutation/genetics ; China ; Child ; Mutation ; Adolescent ; East Asian People |
مستخلص: | Objective: To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency. Methods: A comprehensive questionnaire and ophthalmological assessments were administered to both affected patients and unaffected relatives. The clinical feature analysis included the evaluation of visual acuity, intraocular pressure, slit-lamp anterior segment examination, fundus photography, and spectral domain optical coherence tomography. To identify the mutation responsible for aniridia, targeted next-generation sequencing was used as a beneficial technique. Results: A total of 4 mutations were identified, consisting of two novel frameshift mutations (c.314delA, p.K105Sfs*33 and c.838_845dup AACACACC, p.S283Tfs*85), along with two recurring nonsense mutations (c.307C>T, p.R103X and c.619A>T, p.K207*). Complete iris absence, macular foveal hypoplasia, and nystagmus were consistent in these PAX6 haplotype-deficient Chinese aniridia families, while corneal lesions, cataracts, and glaucoma exhibited heterogeneity both among the families and within the same family. Conclusion: In our study, two novel PAX6 mutations associated with aniridia were identified in Chinese families, which expanded the phenotypic and genotypic spectrum of PAX6 mutations. We also analyzed the clinical characteristics of PAX6 haplotype deficiency in Chinese aniridia families. (© 2024. Huazhong University of Science and Technology.) |
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فهرسة مساهمة: | Keywords: PAX6; aniridia; genotype; haplotype deficiency; mutation; phenotype |
المشرفين على المادة: | 0 (PAX6 Transcription Factor) 0 (PAX6 protein, human) |
تواريخ الأحداث: | Date Created: 20240705 Date Completed: 20240821 Latest Revision: 20240821 |
رمز التحديث: | 20240822 |
DOI: | 10.1007/s11596-024-2903-1 |
PMID: | 38967890 |
قاعدة البيانات: | MEDLINE |
تدمد: | 2523-899X |
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DOI: | 10.1007/s11596-024-2903-1 |