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Participant 139


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Female, age 26 with a history of global developmental delay, moderate intellectual disability, and autism caused by a change in the SPTBN1 gene

Date of Report

Jul 24, 2019

Description

The participant’s parents first became concerned about her development at 18 months when they noticed that she had not started talking or walking independently. The participant continued to be delayed in meeting developmental milestones throughout her childhood. Between 18 months and 3 years, she also developed rigid and obsessive-compulsive behavior and was diagnosed with pervasive developmental disorder, not otherwise specified (PDD-NOS).

At 6 years old, an electroencephalogram (EEG) noted some abnormal brain activity. Unfortunately, her symptoms did not improve with medication. She continues to have moderate intellectual disability and impaired social interactions.

The participant also has some distinctive physical features, such as a broad forehead, skull abnormalities (bitemporal hollowing, dolichocephaly), and increased curvature of the spine (scoliosis, kyphosis). She has some heart abnormalities (aortic regurgitation, aortic aneurysm) as well.

Symptoms / Signs
  • Global developmental delay
  • Moderate Intellectual disability
  • Autism
  • Anxiety
  • Skull abnormalities (bitemporal hollowing, dolichocephaly)
  • Heart abnormalities (aortic regurgitation, aortic aneurysm)
  • Tapered fingers (tapered distal phalanges of finger)
  • Increased curvature of the spine (scoliosis, kyphosis)
  • Loose joints (joint laxity)
  • Impaired social interactions
  • Obsessive-compulsive behavior
  • Repetitive compulsive behavior
  • Tics
  • Hyperactivity
Current Treatments
Prior Treatments
  • Selective serotonin reuptake inhibitor (SSRI) – anxiety
  • Tegretol – abnormal brain activity
Considered treatments
Previously Considered Diagnoses
  • Creatine deficiency syndromes
  • Metabolic condition
  • Microdeletion/microduplication disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following de novo genetic change to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr2:54844791
NM_003128.2
c.613G>A
p.G205S
Contact

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