Abstract：
OBJECTIVE: To report a case of congenital myopathy caused by RYR1 gene complex heterozygous mutation and analyze the pathogenicity of the mutation. Method The clinical manifestation, laboratory examination, imaging findings, muscle pathology and gene test results of a child with congenital myopathy were analyzed retrospectively. Combined with literature review, it is analyzed and discussed. Result The child, female, was admitted to hospital because of \"dyspnea for 22 min after asphyxia resuscitation\". The main manifestations are low muscle tension, the original reflex cannot be drawn out, the trunk and proximal muscles are weak, and the tendon reflex is not drawn out. The pathological signs were negative. The electrolyte of blood liver and kidney function, blood thyroid and blood ammonia were not abnormal, and creatine kinase increased temporarily. Electromyography suggests myogenic damage. Whole exome sequencing showed that there was a new compound heterozygous variation in RYR1 gene c.14427_ 14429del/c.14138C＞T.Western blot showed that the expression of RYR1 protein in patients was significantly lower than that in normal controls. Conclusion The compound heterozygous variation of RYR1 gene c.14427 was reported for the first time in China_ 14429del/c.14138c > t is the pathogenic gene of the child. The new discovery of RYR1 gene spectrum was revealed, which expanded the RYR1 gene spectrum.
摘要：
目的：报道1例RYR1基因复合杂合突变引起的先天性肌病，并分析其致病性。方法根据临床表现,实验室检查,影像学发现，回顾性分析1例先天性肌病患儿的肌肉病理及基因检测结果。结合文献综述，进行了分析和讨论。结果孩子,女性,因“窒息复苏后呼吸困难22分钟”入院。主要表现为低肌张力,原始的反射无法被引出，躯干和近端肌肉很弱，肌腱反射没有被抽出。病理征象均为阴性。血液电解质的肝肾功能，血甲状腺和血氨没有异常，和肌酸激酶暂时增加。肌电图提示肌源性损伤。全外显子组测序显示RYR1基因c.14427_14429del/c.14138C＞T有一个新的复合杂合变异。Westernblot显示RYR1蛋白在患者中的表达明显低于正常对照组。结论中国首次报道RYR1基因c.14427的复合杂合变异_14429del/c.14138c>t是该儿童的致病基因。揭示了RYR1基因谱的新发现,扩大了RYR1基因谱。
