Department of Translational Medicine, Area of Medical Genetics and Genomic Medicine, University of Campinas (UNICAMP), Campinas CEP 13083-887, SP, Brazil.
Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, 1200 Brussels, Belgium.
Genes (Basel). 2023 Apr 8;14(4):882. doi: 10.3390/genes14040882.
-associated syndrome (SAS) is a rare condition, and it is characterized by severe developmental delay/intellectual disability, especially severe speech delay/or absence, craniofacial abnormalities, and behavioral problems. Most of the published reports are limited to children, with little information about the natural history of the disease and the possible novel signs and symptoms or behavioral changes in adulthood. We describe the management and follow-up of a 25-year-old male with SAS due to a de novo heterozygous nonsense variant :c.715C>T:p.(Arg239*) identified by whole-exome sequencing and review the literature. The case herein described contributes to a better characterization of the natural history of this genetic condition and in addition to the genotype-phenotype correlation of the :c.715C>T:p.(Arg239*) variant in SAS, highlights some particularities of its management.
