A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.

ABSTRACT:

Background

Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities caused by SHANK3 loss-of-function mutations. Although SHANK3 haploinsufficiency has been associated with the major neurological symptoms of PMS, it cannot explain the clinical variability seen among individuals. Our goals were to characterize a Brazilian cohort of PMS individuals, explore the genotype-phenotype correlation underlying this syndrome, and describe an atypical individual with mild phenotype.

Methodology

A total of 34 PMS individuals were clinically and genetically evaluated. Data were obtained by a questionnaire answered by parent

SUBMITTER: Samogy-Costa CI 

PROVIDER: S-EPMC6637483 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature