Pediatric Service, Regional of Antofagasta Hospital, Antofagasta 1240835, Chile.
Pediatric Dentistry and Special Dental Care Unit, Meyer Children's University Hospital, 50139 Florence, Italy.
Genes (Basel). 2022 Mar 12;13(3):504. doi: 10.3390/genes13030504.
Phelan-McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of contiguous genes located in the distal portion of the long arm of chromosome 22, including the gene. Sequence variants of , including frameshift, nonsense mutations, small indels and splice site mutations also result in PMS. Furthermore, haploinsufficiency in has been suggested as the main cause of PMS. is also associated with intellectual disability, autism spectrum disorder and schizophrenia. The phenotype of PMS is variable, and lacks a distinctive phenotypic characteristic, so the clinical diagnosis should be confirmed by genetic analysis. PMS is a multi-system disorder, and clinical care must encompass various specialties and therapists. The role of risperidone, intranasal insulin, insulin growth factor 1, and oxytocin as potential therapeutic options in PMS will be discussed in this review. The diagnosis of PMS is important to provide an appropriate clinical evaluation, treatment, and genetic counseling.
佩兰-麦克德米德综合征（PMS）是一种罕见的、异质性的、复杂的神经发育障碍。它通常是由位于 22 号染色体长臂远端的连续基因的杂合性微缺失引起的，包括 基因。 基因的序列变异，包括移码、无义突变、小插入缺失和剪接位点突变，也会导致 PMS。此外， 基因的杂合性缺失被认为是 PMS 的主要原因。 基因还与智力障碍、自闭症谱系障碍和精神分裂症有关。PMS 的表型是多样的，缺乏独特的表型特征，因此临床诊断应通过基因分析来确认。PMS 是一种多系统疾病，临床护理必须涵盖多个专业和治疗师。本文将讨论利培酮、鼻内胰岛素、胰岛素生长因子 1 和催产素作为 PMS 潜在治疗选择的作用。PMS 的诊断对于提供适当的临床评估、治疗和遗传咨询非常重要。
