background participants

Participant 103


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Male, age 5 with global developmental delay caused by a change in the MAPK8IP3 gene

Date of Report

Jan 08, 2019

Description

The participant had difficulties rolling over and sitting at 6 months old. He started physical therapy at 9 months after not reaching additional developmental milestones. Around the same time, he was diagnosed with nystagmus, an eye abnormality in which the eyes repetitively move horizontally. The participant developed “staring spells” and had abnormal brain electrical activity (EEG with parietal and temporal focal spikes). Currently, he has difficulty speaking (dysarthria) and has better receptive than expressive language. In addition, he has low muscle tone (neonatal hypotonia) as well as poor balance. His lack of balance has lead the participant to experience frequent falls. He has difficulty with coordination and motor planning and utilizes a walker and manual wheelchair for mobility. Lastly, the participant has repetitive behavior (stereotypy) that consists of bending his head to the right side and is often combined with hand flapping.

Symptoms / Signs
  • Global developmental delay
  • Low muscle tone (neonatal hypotonia)
  • Abnormal brain electrical activity (EEG with parietal and temporal focal spikes)
  • Eye abnormalities (nystagmus, hypometric saccades)
  • Difficulty speaking (dysarthria)
  • Reduced function of reflexes (hyporeflexia)
  • Repetitive behavior (stereotypy)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Fragile X syndrome
  • Metabolic condition
  • Microdeletion/duplication disorder
  • Myotonic muscular dystrophy
  • Prader Willi syndrome
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
Chr16:1756451
NM_015133.3
c.111C>G
p.Tyr37Ter
Contact

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