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Participant 168


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Male, age 7 with global developmental delay, tight muscles in his legs (increased muscle tone and spasticity), decreased muscle tone in his shoulders and waist (central hypotonia), and regression caused by a change in the PRUNE1 gene

Date of Report

Jul 15, 2020

Description

The participant was born at 41 weeks after a pregnancy complicated by severe morning sickness (hyperemesis gravidarum) during the first 4-5 months. He was hospitalized at 40 days of life due to a fever, but no infection was identified.

Concerns about his delayed development were first raised around 8 months. He was able to roll and crawl at 18 months but then lost these skills around age 3 (progressive loss of gross motor skills). He then lost his ability to hold utensils at age 4 (progressive loss of fine motor skills).

The participant’s length gradually fell below the 5th percentile when he was 2 and 3 (proportionate short stature). When he was 4 years old, his weight percentile also fell.

The participant is currently 7 years old. He is nonverbal but is very social and makes good eye contact, laughs, and smiles. He can’t walk independently (non-ambulatory) and uses a wheelchair. The participant’s muscles are tight in his legs (increased muscle tone and spasticity) but has decreased muscle tone in his shoulders and waist (central hypotonia). He was also found to have skull abnormalities (brachycephaly).

Symptoms / Signs
  • Severe global developmental delay and intellectual disability
  • Motor delay (gross and fine motor delay)
  • Problems with coordination (ataxia and truncal ataxia)
  • Slow movement (bradykinesia)
  • Delayed speech and language development (absent speech)
  • Skull abnormalities (brachycephaly)
  • Tightened muscles of limbs, hips, and pelvis (progressive spasticity, spastic diplegia)
  • Involuntary movements in ankles (bilateral ankle clonus)
  • Decreased body weight
  • Short stature (proportionate short stature)
  • Low muscle tone (generalized hypotonia)
Current Treatments
  • Thoracolumbosacral orthosis
Prior Treatments
  • Carbidopa
  • Glycopyrrolate
  • Vitamin D supplement
Considered treatments
Previously Considered Diagnoses
  • Allan-Herndon-Dudley syndrome
  • Fragile X syndrome
  • Microdeletion/duplication syndromes
  • Muscular dystrophies
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal recessive
Chr1:151001420
NM_021222.1
c.933G>A
p.Thr311=
Contact

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