Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan |
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Authors: | Tomoe Yanagishita Keiko Yamamoto-Shimojima Sayaka Nakano Testuya Sasaki Hideo Shigematsu Katsumi Imai Toshiyuki Yamamoto |
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Institution: | 1. Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan;2. Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan;3. Tokyo Women’s Medical University Institute of Integrated Medical Sciences, Tokyo, Japan;4. Department of Pediatrics, National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan;5. Department of Pediatrics, Iwate Prefectural Chubu Hospital, Kitakami, Japan |
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Abstract: | 1q41q42 microdeletion syndrome has been established in 2007. Since then, more than 17 patients have been reported so far. The reported deletions showed random breakpoints and deletion regions are aligned as roof tiles. Patients with 1q41q42 microdeletion syndrome show intellectual disability, seizures, and distinctive features. Many genotype-phenotype correlation studies have been performed and some genes included in this region have been suggested as potential candidate genes. Recently, de novo variants in WDR26 and FBXO28 were identified in patients who showed consistent phenotypes with 1q41q42 microdeletion syndrome. Thus, both genes are now considered as the genes possibly responsible for 1q41q42 microdeletion syndrome. Here, the first case of a Japanese patient with a de novo 1q41q42 microdeletion is reported. Owing to the distinctive features, this syndrome would be clinically recognizable. |
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Keywords: | Chromosomal microarray testing Smallest region of overlap (SRO) Ataxic gait Loss-of-function |
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