SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review

Matheus de Mello Copelli; Eleonore Pairet; Milena Atique-Tacla; Társis Paiva Vieira; Simone Appenzeller; Raphaël Helaers; Miikka Vikkula; Vera Lúcia Gil-da-Silva-Lopes

doi:10.3390/genes14040882

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review

Genes (Basel). 2023 Apr 8;14(4):882. doi: 10.3390/genes14040882.

Authors

Matheus de Mello Copelli¹, Eleonore Pairet², Milena Atique-Tacla¹, Társis Paiva Vieira¹, Simone Appenzeller³, Raphaël Helaers², Miikka Vikkula², Vera Lúcia Gil-da-Silva-Lopes¹

Affiliations

¹ Department of Translational Medicine, Area of Medical Genetics and Genomic Medicine, University of Campinas (UNICAMP), Campinas CEP 13083-887, SP, Brazil.
² Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, 1200 Brussels, Belgium.
³ Department of Orthopedics, Rheumatology and Traumatology, School of Medical Science, University of Campinas (UNICAMP), Campinas CEP 13083-887, SP, Brazil.

Abstract

SATB2-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 SATB2: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 SATB2:c.715C>T:p.(Arg239*) variant in SAS, highlights some particularities of its management.

Keywords: SATB2; behavior problems; cleft palate; natural history; osteopenia; whole-exome sequencing.

Publication types

Review
Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Genetic Association Studies
Humans
Intellectual Disability* / genetics
Male
Matrix Attachment Region Binding Proteins* / genetics
Phenotype
Syndrome
Transcription Factors / genetics

Substances

Matrix Attachment Region Binding Proteins
Transcription Factors
SATB2 protein, human

Grants and funding

This research was funded by the National Council for Scientific and Technological Development (CNPq) (#408504/2018-8 and #309782/2020-1), Coordenação de Aperfeiçoamento de Pessoal de Nível Superior—Brasil (CAPES #001) (to VLGSL), and Fonds de la Recherche Scientifique—FNRS Grant J.0228.20 (to M.V). The authors thank the Genomics Platform of the University of Louvain for the access to the Next-Generation Sequencing data analysis cluster. Eleonore Pairet is a Research Fellow (ASP) grantee of the Fonds de la Recherche Scientifique—FNRS. We also thank the National Lottery, Belgium and the Foundation Against Cancer (2010-101), Belgium for their support to the Genomics Platform of the University of Louvain and the de Duve Institute, as well as the Fonds de la Recherche Scientifique—FNRS Equipment Grant U.N035.17 for the «Big data analysis cluster for NGS at UCLouvain».