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Mutation update for the SATB2 gene.

Yuri A Zarate1, Katherine A Bosanko1, Aisling R Caffrey2

  • 1Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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Summary
This summary is machine-generated.

SATB2-associated syndrome (SAS) is a neurodevelopmental disorder. This review details 120 unique SATB2 gene variants in 155 families, aiding in SAS diagnosis and care.

Keywords:
SATB2SATB2-associated syndromegenotype-phenotype correlationpathogenic variantswhole exome sequencing

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Molecular Biology

Background:

  • SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder.
  • It is caused by pathogenic alterations in the SATB2 gene.

Purpose of the Study:

  • To review published pathogenic SATB2 variants.
  • To report 38 novel alterations in 57 individuals.
  • To compile and analyze a comprehensive set of SATB2 variants and associated phenotypes.

Main Methods:

  • Literature review of published SATB2 pathogenic variants.
  • Identification and characterization of 38 novel SATB2 alterations in 57 individuals.
  • Genotype-phenotype correlation analysis.

Main Results:

  • A compilation of 120 unique SATB2 variants from 155 families, including single nucleotide variants and genomic rearrangements.
  • Premature stop codon variants (42.5%) and missense variants (25.8%) are the most common.
  • Novel genotype-phenotype correlations were identified.

Conclusions:

  • This review provides an extensive overview of SATB2 variants and SAS phenotypes.
  • Understanding these variants aids in diagnosing and managing SAS.
  • Further research into functional characterization and animal models is warranted.