Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant

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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Main Authors: 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
Format: Article
Language:English
Published: Wiley 2024-12-01
Series:Clinical Case Reports
Subjects:
heart defect
Kett syndrome
MeCP2
metabolism
whole‐exome sequencing
Online Access:https://doi.org/10.1002/ccr3.9503
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