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In addition to the recently described 158 individuals with SAS¹, 36 other cases of large deletions² ³ (5 unpublished) that include SATB2 and surrounding genes are represented below.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