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Participant 076


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Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

 

Male, age 12, with developmental regression, absent speech, seizures, and distinct facial features

Date of Report

Mar 03, 2020

Description

The participant met all his developmental milestones on time until he was 16 months old. At that time, he lost his verbal skills (developmental regression) and was diagnosed with autism. He began to have seizures at the age of 6, which later became staring spells. He currently does not speak but communicates through pictures and gestures. He struggles to grasp academic concepts, but his strength lies in his muscle memory activities and gross motor activities. He is a generally happy kid, who expresses his happiness by making loud high pitched shrieks with his arms bent at shoulders. He has been in applied behavior analysis (ABA) therapy since the age of 2 and still continues to receive it. He has had huge improvements in eye contact but is unable to mimic simple sounds.

He has a low hairline (low anterior hairline), thick upper lip (thick vermilion border), intermittent crossed eyes (strabismus), and abnormality of the ear (abnormality of the pinna). His past MRI findings show abnormality in the brain (abnormality of the thin corpus callosum).

Symptoms / Signs
  • Developmental regression
  • Severe intellectual disability
  • Autism
  • Absent speech
  • Seizures
  • Abnormal closure of the back of the skull (abnormality of the anterior fontanelle)
  • Low hairline on forehead (low anterior hairline)
  • Abnormal facial shape
  • Open mouth
  • Thick upper lip (thick vermilion border)
  • Crossed eye (strabismus)
  • Abnormality of the ear (abnormality of the pinna)
  • Long fingers
Current Treatments
  • Anti-seizure medication
  • Applied behavior analysis (ABA) therapy
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Coffin-Lowry syndrome
  • Fragile X syndrome
  • Microdeletion/duplication syndrome
  • Single gene condition (exome sequencing was nondiagnostic)
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
G3BP1
Autosomal dominant
chr5:g.151170624G>T
NM_005754.2
c.351+1G>T
N/A
PPP2CB
Autosomal recessive
chr8:g.30655231del
NM_001009552.1
c.352delC
p.His118ThrfsTer41
MYCBP2
Autosomal dominant
chr13:g.77699483G>A
NM_015057.4
c.8005C>T
p.Arg2669Ter
Contact

If this participant sounds like you or someone you know, please contact us!

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