Gong Xiaoqin, Wang Tuanmei, Chen Anji, Ouyang Geng, Lv Mengmei, Gao Jianxin, Yu Baomei, Wu Min, Qi Huaxue, Zhu Yunsu, Dai Jinjin, He Jun, Liu Jiyang, Peng Xiangwen
Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University Changsha China.
Changsha Municipal Health Commission Changsha China.
Clin Case Rep. 2024 Nov 29;12(12):e9503. doi: 10.1002/ccr3.9503. eCollection 2024 Dec.
This study reports a Chinese male patient with a novel MeCP2 p.Lys254*variant. Upon birth, the patient presented with typical symptoms, such as abnormal electroencephalogram, immature sleep rhythm, hypotonia, feeding difficulties, pulmonary fluid accumulation, horizontal fissures in the lungs, hypoventilation, and heart defects.
MeCP2 is a gene located on the X chromosome and the main pathogenic gene responsible for Rett syndrome, which mainly occurs in females. Herein, we identified a male patient with a novel MeCP2 p.Lys254* variant through whole-exome sequencing, although both parents are wild type. Upon birth, the patient presented with typical symptoms, such as abnormal electroencephalogram, immature sleep rhythm, hypotonia, feeding difficulties, pulmonary fluid accumulation, horizontal fissures in the lungs, hypoventilation, and other symptoms. Period of breathing support, but also found that the boy had a heart defect and horizontal fissure in the lungs. Our discovery of a new spontaneous MeCP2 nonsense mutation enriches the understanding of Rett syndrome and provides a reference for its early diagnosis and treatment.
本研究报告了一名患有新型MeCP2 p.Lys254*变异的中国男性患者。该患者出生时即出现典型症状，如脑电图异常、睡眠节律不成熟、肌张力低下、喂养困难、肺积液、肺部水平裂、通气不足和心脏缺陷。
MeCP2是位于X染色体上的基因，是导致雷特综合征的主要致病基因，该综合征主要发生于女性。在此，我们通过全外显子测序鉴定出一名患有新型MeCP2 p.Lys254*变异的男性患者，尽管其父母均为野生型。该患者出生时即出现典型症状，如脑电图异常、睡眠节律不成熟、肌张力低下、喂养困难、肺积液、肺部水平裂、通气不足等症状。在呼吸支持期间，还发现该男孩存在心脏缺陷和肺部水平裂。我们发现的新的自发性MeCP2无义突变丰富了对雷特综合征的认识，并为其早期诊断和治疗提供了参考。
