I D V, Proskokova T N
Khabarovsk Center for the Development of Psychology and Childhood «Psylogia», Khabarovsk, Russia.
Far-East State Medical University, Khabarovsk, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2023;123(8):124-128. doi: 10.17116/jnevro2023123081124.
Phelan-McDermid syndrome (PMS) is a hereditary disorder associated with microdeletions of chromosome 22q13 or point mutations in SHANK3, characterized by mental and speech delays, intellectual disability, epilepsy and autism spectrum disorder. We describe a case PMS associated with a heterozygous mutation c.2486delC (p.Pro829fs) in SHANK3. The diagnostic pathway of a female patient with PMS took more than 7 years; the reason for treatment was the onset of epileptic seizures and impaired speech development. The existence of different types of rearrangements and genomic variations can explain the high clinical variability observed in individuals with PMS. Only molecular diagnosis can accurately diagnose individuals with PMS for follow-up and medical genetic counselling of families.
费伦-麦克德米德综合征（PMS）是一种遗传性疾病，与22q13染色体微缺失或SHANK3基因点突变相关，其特征为智力和语言发育迟缓、智力残疾、癫痫和自闭症谱系障碍。我们描述了一例与SHANK3基因杂合突变c.2486delC（p.Pro829fs）相关的PMS病例。一名患有PMS的女性患者的诊断过程耗时7年多；治疗原因是癫痫发作和语言发育受损。不同类型的重排和基因组变异的存在可以解释在PMS患者中观察到的高度临床变异性。只有分子诊断才能准确诊断PMS患者，以便进行后续随访和为家庭提供医学遗传咨询。
