What is SAS? | For Professionals

What is sas?

For healthcare professionals
Manifestations
Cause and Prevalence

CORE FEATURES OF SATB2-ASSOCIATED SYNDROME (SAS) CAN BE REMEMBER BY THE FOLLOWING ACRONYM USING THE NAME OF THE SATB2 GENE.

S: Severe speech anomalies

A: Abnormalities of the palate

T: Teeth anomalies

B: Behavioral issues with or without Bone or Brain MRI anomalies

2: Age of onset before 2 years of age

sas Quick Facts Infographic

SAS Info for providers

 


 

DEVELOPMENT

  • Speech delay 100%1
  • Apraxia of speech ~100%2
  • Hypotonia 59%1

speech & feeding infographic

 

The severity of speech delay by age as determined by the current number of spoken words for 129 individuals with SAS (Modified from Zarate et al.1)

PALATAL

  • Cleft palate 45%1
  • Dysphagia with or without cleft palate 61%

DENTAL ~100%1,3,4

  • Severe crowding
  • Large upper incisors
  • Other: Malformed, supernumerary, fused teeth
  • Bruxism
  • Radiographic anomalies including delayed development of 2nd premolars, delayed root formation, and rotated/malformed teeth

dental issues infographic

 

BEHAVIORAL

  • Jovial personality
  • Episodes of frustration, tantrums, and meltdowns in childhood
  • Aggressive outbursts during teenage years and adulthood
  • Autistic behavior 20%1
  • Sleeping difficulties 45-50%1

behavioral infographic

 

BONE1,5

  • Low bone density as early as infancy 72%
  • Tibial bowing
  • Elevated alkaline phosphatase
  • Low Vitamin D
  • Scoliosis

BRAIN

  • Abnormal neuroimaging including white matter anomalies/delayed myelination 46%1
  • Clinical Seizures 20%1
  • Abnormal EEGs without clinical seizures

DYSMORPHISM1,6

  • Thin vermilion of the upper lip
  • Flat philtrum
  • Deeply set eyes
  • Micrognathia
  • Broad thumbs/halluces

Composite facial features as generated by facial recognition technology (FDNA vs.17.6.1 ) from 55 children age 13 years and younger with intragenic pathogenic variant.6

OTHER1

  • Sialorrhea 63%2
  • Growth retardation 31%1. Often body habitus is described as “marfanoid” and overall thin.

 


References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519; 2. Unpublished data; 3. Scott et al. Clin Oral Investig. 2018; PMID: 30315422. 4. Scott et al. Spec Care Dentist. 2019; PMID: 30648748. 5. Zarate YA, et al. Clin Genet. 2018; PMID: 28787087; 6. Zarate YA, et al. Am J Med Genet A. 2018; PMID: 29436146.

Alterations to the SATB2 locus can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations.1,2,3

Go to molecular data

 


 

SATB2 FUNCTION

SATB2 is a transcription factor involved in chromatin organization. Through the transcription of multiple genes, SATB2 is critical to the development of multiple tissues including the jaw, brain, and skeleton – tissues.

 


 

SAS PREVALENCE

The prevalence of SAS is not known. However, two recent studies have estimated the frequency of SAS in large cohorts of individuals with undiagnosed intellectual disability/developmental delay at 0.24%-0.3%4,5

OVER 200 CASES CONFIRMED WORLDWIDE

 


References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519. 2. Zarate YA, Kaylor J, Fish J. GeneReviews. 2017; PMID: 29023086. 3. Zarate YA, Fish J. Am J Med Genet A. 2017; PMID: 27774744. 4. Zarate YA, et al. Clin Genet. 2017; PMID: 28139846. 5. Bengani H et al. 2017; PMID:2 8151491