Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome
| Autor: | Hefeng Huang, Chunxin Chang, Chenming Xu, Yiyao Chen, Hongjun Fei, Weihui Shi, Lanlan Zhang, Jun-Yu Zhang, Shuyuan Li, Songchang Chen |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Journal of Bio-X Research, Vol 1, Iss 3, Pp 140-146 (2018) |
| ISSN: | 2577-3585 2096-5672 |
| Popis: | 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. Key words: facial analysis; Kabuki syndrome type 2; RNA assay; targeted sequencing |
| Databáze: | OpenAIRE |
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