摘要目的:总结 PRPS1基因变异致X连锁腓骨肌萎缩症5型(X-linked Charcot-Marie-Tooth type 5，CMTX5)一家系临床表现及基因类型，并进行文献回顾。 方法:收集2023年8月在深圳市儿童医院就诊的1名 PRPS1基因变异致CMTX5男性患儿的临床表现及基因突变资料，追踪家系患病情况，并在万方数据、中国知网(CNKI)、维普数据库及PubMed数据库中对相关文献进行回顾总结。 结果:患儿，男，8岁8月，因渐进性双下肢无力5年为主要表现就诊本院，同时伴有听力损害，1年余前接受了人工耳蜗植入手术。体格检查见行走姿势异常，表现为跨域步态。肌电图提示周围神经受损，外显子组测序显示患儿 PRPS1基因(c.202A>T，p.Met68Leu)突变，其母亲为杂合携带者，显示为X连锁隐性遗传特性，诊断为CMTX5。中文文献检索涉及CMTX5的临床报道共2例，英文文献检索有关CMTX5的临床报道共13例，包括本例共16例，临床均表现为周围神经损害及听力损害，视力损害6例，占比37.5%。所有患者的突变位点共14个，均为错义突变，中文报道的1例与韩国报道的另一例为同一突变位点c.344T>C，但两例的临床表现不完全相同；本文及法国另一例为同一突变位点c.202A>T，临床表现类似，余报道位点均不同。 结论:CMTX5表现为进行性肢体无力及周围神经损害，合并听力障碍，部分合并视力损害，符合X连锁隐性遗传特征。不同突变位点临床表现有差异，相同突变位点临床表现类似，但症状出现时间和严重程度不一致，至今尚未发现热点突变。及时完善基因检测有助于明确诊断，指导治疗及产前诊断。

abstractsObjective:To summarize the clinical manifestations and genotypes of a family with X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) caused by a PRPS1 gene variant and to review the related literature. Methods:Clinical data and genetic testing results were collected from a male child diagnosed with CMTX5 due to a PRPS1 variant who presented to Shenzhen Children’s Hospital in August 2023. The family pedigree was traced, and relevant literature was reviewed using the Wanfang Data, CNKI, WIPO, and PubMed databases. Results:The proband, an 8-year and 8-month-old boy, presented with progressive bilateral lower limb weakness over five years, accompanied by hearing impairment. He underwent cochlear implantation more than a year prior. Physical examination revealed an abnormal gait characterized by a waddling pattern. Electromyography indicated peripheral nerve damage. Exome sequencing identified a missense mutation in the PRPS1 gene (c.202A>T, p. Met68Leu), with his mother confirmed as a heterozygous carrier, consistent with X-linked recessive inheritance. A diagnosis of CMTX5 was established. Two Chinese-language case reports of CMTX5 were identified. 13 English-language clinical reports were reviewed, resulting in 16 reported cases, including the current one. All patients presented with peripheral neuropathy and hearing impairment, while 6 (37.5%) also exhibited visual impairment. Fourteen distinct PRPS1 missense mutations were reported. One Chinese and one Korean case shared the same mutation site (c.344T>C) but differed clinically. The present case and a previously reported French case shared the same mutation site (c.202A>T) with similar clinical features. Conclusions:CMTX5 is characterized by progressive limb weakness, peripheral neuropathy, hearing impairment, and visual impairment in some cases. It follows an X-linked recessive inheritance pattern. While different mutation sites result in varied clinical presentations, similar mutations tend to yield comparable phenotypes, albeit with variability in symptom onset and severity. No mutation hotspot has been identified to date. Genetic testing can aid in diagnosis, treatment planning, and prenatal counseling.