Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant
Key Clinical Message 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 fissure...
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Wiley
2024-12-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.9503 |
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| author | Xiaoqin Gong Tuanmei Wang Anji Chen Geng Ouyang Mengmei Lv Jianxin Gao Baomei Yu Min Wu Huaxue Qi Yunsu Zhu Jinjin Dai Jun He Jiyang Liu Xiangwen Peng |
| author_facet | Xiaoqin Gong Tuanmei Wang Anji Chen Geng Ouyang Mengmei Lv Jianxin Gao Baomei Yu Min Wu Huaxue Qi Yunsu Zhu Jinjin Dai Jun He Jiyang Liu Xiangwen Peng |
| author_sort | Xiaoqin Gong |
| collection | DOAJ |
| description | Key Clinical Message 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. Abstract 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. |
| format | Article |
| id | doaj-art-8dd7ccfabddf4a68bf3a62abceddc5da |
| institution | OA Journals |
| issn | 2050-0904 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-8dd7ccfabddf4a68bf3a62abceddc5da2025-08-20T01:57:19ZengWileyClinical Case Reports2050-09042024-12-011212n/an/a10.1002/ccr3.9503Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variantXiaoqin Gong0Tuanmei Wang1Anji Chen2Geng Ouyang3Mengmei Lv4Jianxin Gao5Baomei Yu6Min Wu7Huaxue Qi8Yunsu Zhu9Jinjin Dai10Jun He11Jiyang Liu12Xiangwen Peng13Hunan 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 ChinaHunan 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 ChinaHunan 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 ChinaHunan 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 ChinaHunan 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 ChinaHunan 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 ChinaHunan 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 ChinaHunan 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 ChinaHunan 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 ChinaHunan 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 ChinaHunan 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 ChinaHunan 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 ChinaChangsha Municipal Health Commission Changsha ChinaHunan 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 ChinaKey Clinical Message 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. Abstract 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.https://doi.org/10.1002/ccr3.9503heart defectKett syndromeMeCP2metabolismwhole‐exome sequencing |
| spellingShingle | Xiaoqin Gong Tuanmei Wang Anji Chen Geng Ouyang Mengmei Lv Jianxin Gao Baomei Yu Min Wu Huaxue Qi Yunsu Zhu Jinjin Dai Jun He Jiyang Liu Xiangwen Peng Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant Clinical Case Reports heart defect Kett syndrome MeCP2 metabolism whole‐exome sequencing |
| title | Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant |
| title_full | Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant |
| title_fullStr | Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant |
| title_full_unstemmed | Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant |
| title_short | Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant |
| title_sort | proteomic analysis of serum from a mecp2 patient reveals an arginine biosynthesis pathway affected by the p lys254 variant |
| topic | heart defect Kett syndrome MeCP2 metabolism whole‐exome sequencing |
| url | https://doi.org/10.1002/ccr3.9503 |
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