Clinical and Genetic Aspects of Phelan−McDermid Syndrome: An Interdisciplinary Approach to Management

Francisco Cammarata Scalisi, Michele Callea, Diego Martinelli, Colin Eric Willoughby, Antonio Cárdenas Tadich, Maykol Araya Castillo, María Angelina Lacruz-Rengel, Marco Medina, Piercesare Grimaldi, Enrico Bertini, Julián Nevado

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Abstract

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.
Original languageEnglish
Article number504
Pages (from-to)1-12
Number of pages12
JournalGenes
Volume13
Issue number3
DOIs
Publication statusPublished - 12 Mar 2022

Bibliographical note

Funding Information:
We would like to thank Rosalia Gumina of the University of The Andes for her support with the literature review.

Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.

Keywords

  • Phelan–McDermid syndrome
  • SHANK3
  • etiology
  • evaluation
  • treatment

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