PDF(Pubmed)
Abstract：
BACKGROUND: The OTUD5 gene encodes a deubiquitinating enzyme (DUB) of the OTU family. Variants of OTUD5 are associated with X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND). The case described in this study expands the clinical and molecular spectrum of OTUD5.
METHODS: Trio-based clinical exome sequencing (trio-CES) was performed on a Chinese boy with a clinical phenotype and both of his parents. Sanger sequencing was employed for validation of the variant detected.
RESULTS: The patient presented with characteristic facial features, intellectual disability, motor/language/cognitive, and global developmental delays, limb contractures, and kidney abnormalities, and trio-CES identified a de novo missense variant, c.1305T>A, of the OTUD5 gene.
CONCLUSIONS: We describe OTUD5 gene variation in the Chinese population, with the first report of this variant. Additionally, we provide a comprehensive summary of all published cases of MCAND to date, in order to elucidate the primary clinical features of the syndrome and the variability in phenotype severity. This case expands the genetic and clinical phenotypic spectrum of OTUD5-associated MCAND.
METHODS: Trio-based clinical exome sequencing (trio-CES) was performed on a Chinese boy with a clinical phenotype and both of his parents. Sanger sequencing was employed for validation of the variant detected.
RESULTS: The patient presented with characteristic facial features, intellectual disability, motor/language/cognitive, and global developmental delays, limb contractures, and kidney abnormalities, and trio-CES identified a de novo missense variant, c.1305T>A, of the OTUD5 gene.
CONCLUSIONS: We describe OTUD5 gene variation in the Chinese population, with the first report of this variant. Additionally, we provide a comprehensive summary of all published cases of MCAND to date, in order to elucidate the primary clinical features of the syndrome and the variability in phenotype severity. This case expands the genetic and clinical phenotypic spectrum of OTUD5-associated MCAND.
摘要：
背景：OTUD5基因编码OTU家族的去泛素化酶（DUB）。OTUD5的变异与X连锁的多发性先天性异常-神经发育综合征（MCAND）相关。本研究中描述的病例扩展了OTUD5的临床和分子谱。
方法：对一名具有临床表型的中国男孩及其父母进行了基于Trio的临床外显子组测序（trio-CES）。Sanger测序用于验证检测到的变体。
结果：患者具有特征性的面部特征，智力残疾,运动/语言/认知，和全球发展迟缓，肢体挛缩,和肾脏异常，三人消费电子展确定了一个从头的错觉变体，c.1305T>A,OTUD5基因。
结论：我们描述了中国人群中的OTUD5基因变异，这个变种的第一份报告。此外,我们提供了迄今为止所有已发表的MCAND案例的全面摘要，为了阐明该综合征的主要临床特征和表型严重程度的变异性。此病例扩展了OTUD5相关MCAND的遗传和临床表型谱。
方法：对一名具有临床表型的中国男孩及其父母进行了基于Trio的临床外显子组测序（trio-CES）。Sanger测序用于验证检测到的变体。
结果：患者具有特征性的面部特征，智力残疾,运动/语言/认知，和全球发展迟缓，肢体挛缩,和肾脏异常，三人消费电子展确定了一个从头的错觉变体，c.1305T>A,OTUD5基因。
结论：我们描述了中国人群中的OTUD5基因变异，这个变种的第一份报告。此外,我们提供了迄今为止所有已发表的MCAND案例的全面摘要，为了阐明该综合征的主要临床特征和表型严重程度的变异性。此病例扩展了OTUD5相关MCAND的遗传和临床表型谱。
