Molecular Data | For Professionals

molecular data

for healthcare professionals
types of mutations
mutation list
genotype/phenotype

 

TYPES OF MUTATIONS

A Broad variety of alterations of the SATB2 gene have been described in the past. Single nucleotide variants that are predicted to result in the occurrence of a premature stop codon are the most commonly seen type of variant.1

In addition to the recently described 158 individuals with SAS1, 36 other cases of large deletions2,3 (5 unpublished) that include SATB2 and surrounding genes are represented below.

 


References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519. 2. Zarate YA, Fish J. Am J Med Genet A. 2017; PMID: 27774744. 3. Zarate YA, et al. Am J Med Genet A. 2018; PMID: 29436146

MUTATION LIST

A Broad variety of alterations of the SATB2 gene have been described in the past. A comprehensive list of pathogenic variants was recently reported1.

list of mutations pdf

 


 

Coding variants are present in every coding exon (exon 3-12) but the distribution is not uniform. Nearly half of the pathogenic variants are found in exons 8 and 9, with a clear overrepresentation of exon 9 when adjusting by exon size.1


 

Some variants have been reported in multiple individuals. The most common variant is c.1165C>T (p.Arg389Cys) reported 10 times.

 

Top: truncating variants; Bottom: missense variants

 


References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519. 2. Zarate YA, Fish J. Am J Med Genet A. 2017; PMID: 27774744. 3. Zarate YA, et al. Am J Med Genet A. 2018; PMID: 29436146

GENOTYPE/PHENOTYPE CORRELATIONS

Genotype/phenotype correlations have just recently started to emerge.1

NONSENSE MISSENSE FRAMESHIFT
  • Lowest number of non-verbal individuals after 4 years of age= (8/29=27.6%)
  • Less likely to have clinical seizures (3/35=8.6%)
  • Highest number of non-verbal individuals after 4 years of age= (20/39=51.3%)
  • Less likely to have cleft palate (11/49=22.5%)
  • More likely to have clinical seizures (14/46=30.4%)
  • More likely to have feeding difficulties (25/26=96.2%)

View PDF for a more detailed description of features and developmental milestones for each individual¹:

genotype phenotype pdf

 


References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519. 2. Zarate YA, Fish J. Am J Med Genet A. 2017; PMID: 27774744. 3. Zarate YA, et al. Am J Med Genet A. 2018; PMID: 29436146