Abstract：
Schaaf-Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein-coding genes within the Prader-Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular characteristics with PWS but has some distinct features, such as joint contractures and autism. Patients with PWS show abnormal electroencephalography (EEG) patterns. However, there are very few reports on EEG findings in patients with SYS.
A SYS patient was included in this study. Detailed neurological examinations and EEG were performed from neonate to infant ages. Sanger sequencing was performed.
Our patient presented abnormal EEG findings and had diffuse brain dysfunction symptoms including a reduced level of consciousness, diminished spontaneous movements, hypotonia, feeding difficulties, and hypoventilation from early after birth. As she grew older and her background activity of EEG normalized, her neurodevelopmental symptoms remained but improved. Sanger sequencing of this patient revealed a novel, heterozygous c.2005C > T, truncating mutation in the MEGAL2 gene.
We described an SYS-associated, time-dependent, EEG pattern in a patient with SYS. Our findings of longitudinal EEG changes in a patient with SYS revealed a specific pattern of how affected individuals develop brain function.
A SYS patient was included in this study. Detailed neurological examinations and EEG were performed from neonate to infant ages. Sanger sequencing was performed.
Our patient presented abnormal EEG findings and had diffuse brain dysfunction symptoms including a reduced level of consciousness, diminished spontaneous movements, hypotonia, feeding difficulties, and hypoventilation from early after birth. As she grew older and her background activity of EEG normalized, her neurodevelopmental symptoms remained but improved. Sanger sequencing of this patient revealed a novel, heterozygous c.2005C > T, truncating mutation in the MEGAL2 gene.
We described an SYS-associated, time-dependent, EEG pattern in a patient with SYS. Our findings of longitudinal EEG changes in a patient with SYS revealed a specific pattern of how affected individuals develop brain function.
摘要：
Schaaf-Yang综合征（SYS）是一种罕见的遗传性疾病，由黑色素瘤抗原L2（MAGEL2）的父系等位基因的截断点突变引起，Prader-Willi综合征（PWS）关键域中的五个蛋白质编码基因之一。SYS与PWS具有许多临床和分子特征，但具有一些明显的特征，如关节挛缩和自闭症。PWS患者表现出异常脑电图（EEG）模式。然而,很少有关于SYS患者脑电图发现的报道。
本研究包括一名SYS患者。从新生儿到婴儿年龄进行了详细的神经系统检查和EEG。进行Sanger测序。
我们的患者表现出异常的脑电图结果，并有弥漫性脑功能障碍症状，包括意识水平降低，减少自发运动，低张力,喂养困难，出生后早期通气不足。随着年龄的增长和脑电图的背景活动正常化，她的神经发育症状仍然存在，但有所改善。这个病人的桑格测序揭示了一个新的，杂合c.2005C>T，MEGAL2基因中的截断突变。
我们描述了一个与SYS相关的，依赖于时间，SYS患者的脑电图模式。我们对SYS患者的纵向EEG变化的发现揭示了受影响的个体如何发展大脑功能的特定模式。
本研究包括一名SYS患者。从新生儿到婴儿年龄进行了详细的神经系统检查和EEG。进行Sanger测序。
我们的患者表现出异常的脑电图结果，并有弥漫性脑功能障碍症状，包括意识水平降低，减少自发运动，低张力,喂养困难，出生后早期通气不足。随着年龄的增长和脑电图的背景活动正常化，她的神经发育症状仍然存在，但有所改善。这个病人的桑格测序揭示了一个新的，杂合c.2005C>T，MEGAL2基因中的截断突变。
我们描述了一个与SYS相关的，依赖于时间，SYS患者的脑电图模式。我们对SYS患者的纵向EEG变化的发现揭示了受影响的个体如何发展大脑功能的特定模式。
