دورية أكاديمية
Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome
| العنوان: | Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome |
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| المؤلفون: | Weihui Shi, Yiyao Chen, Songchang Chen, Shuyuan Li, Chunxin Chang, Lanlan Zhang, Hongjun Fei, Hefeng Huang, Junyu Zhang, Chenming Xu |
| المصدر: | Journal of Bio-X Research, Vol 1, Iss 3, Pp 140-146 (2018) |
| بيانات النشر: | Wolters Kluwer Health, 2018. |
| سنة النشر: | 2018 |
| المجموعة: | LCC:Medicine LCC:Biology (General) |
| مصطلحات موضوعية: | Medicine, Biology (General), QH301-705.5 |
| الوصف: | Abstract. Kabuki syndrome (KS) is a rare congenital mental retardation condition characterized by facial dysmorphia, visceral and skeletal malformations, and developmental delay. The integrated phenotype and genotype-based prioritization is critical for diagnoses of genetic diseases. In this study, a Chinese woman, presenting with characteristic facial features of KS, came for pre-pregnancy consultation. We aimed to clarify the diagnosis and provide pre-pregnancy genetic counseling. Facial dysmorphology analysis and next-generation sequencing-based multigene panel approach were used to identify candidate syndromes and causative variants, respectively. The candidate variant was verified by Sanger sequencing. We identified a novel de novo KDM6A pathogenic variant (c.3521G>A) in the woman, which was in line with the Face2Gene analysis result. Peripheral blood RNA assay showed that the variant transcript underwent the nonsense-mediated mRNA decay and led to subsequent haploinsufficiency of KDM6A. Our study provides the genetic diagnosis method for KS type 2 and identifies the first KDM6A point variant in Chinese patient. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2096-5672 2577-3585 00000000 |
| Relation: | http://journals.lww.com/10.1097/JBR.0000000000000022; https://doaj.org/toc/2096-5672; https://doaj.org/toc/2577-3585 |
| DOI: | 10.1097/JBR.0000000000000022 |
| URL الوصول: | https://doaj.org/article/d5526d18e4ab40a2860849aa732a4c7d |
| رقم الأكسشن: | edsdoj.5526d18e4ab40a2860849aa732a4c7d |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20965672 25773585 00000000 |
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| DOI: | 10.1097/JBR.0000000000000022 |