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Participant 039


GNAS
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Male, age 12, with overgrowth and developmental delay caused by a change in the GNAS gene

Date of Report

Nov 13, 2017

Description

After birth, the patient was found to be in respiratory distress. He had low levels of red blood cells (anemia), yellowing of the skin (jaundice caused by hyperbilirubinemia), and heartburn (gastroesophageal reflux). This required hospitalization in the NICU for 72 days.

Over time, the patient was noticed to have delayed milestones (global developmental delay), walking and talking at approximately 2 years of age. He progressed quickly afterward. However, he still has difficulty walking and currently uses a walker and sometimes a wheelchair. He experiences painful bone cracking and hand, foot, and ankle discomfort when walking.

At the age of 9, he was seen by endocrinology due to increased height and weight despite diet and exercise. Currently, he continues to grow at a fast pace with his clothing and shoe size going up over the span of just a few months.

Symptoms / Signs
  • Accelerated skeletal maturation
  • Overgrowth
  • Tall stature
  • Obesity
  • Large head size (macrocephaly)
  • Increased levels of insulin in blood (hyperinsulinemia)
  • Insulin resistance
  • Increased appetite (polyphagia)
  • Dark patches of thick, velvety skin (acanthosis nigricans)
  • Attention deficit hyperactivity disorder
  • Global developmental delay
  • Migraine
  • Increased thickness of the heart (hypertrophic cardiomyopathy)
  • Heart defect (pulmonic stenosis)
  • Slow heart rate (bradycardia)
  • Sleep apnea (obstructive)
  • Asthma
  • Skin tags
  • Almond-shaped opening between the eyelids (palpebral fissure)
  • Heartburn (gastroesophageal reflux)
  • Increased volume of urine (polyuria)
  • Increased levels of cortisol in urine (increased urinary cortisol level)
  • Flat feet (pes planus)
  • Increased hormone secreted by the pituitary gland (increased circulating ACTH level)
  • Increased liver enzymes (elevated alkaline phosphatase)
Current Treatments
  • Gabapentin- nerve pain in arms and neck
  • Lamictal, Prozac, Concerta- behavior issues
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Beckwith-Wiedemann syndrome
  • EZH2-related overgrowth
  • Fragile X syndrome
  • Prader-Willi syndrome
  • PTEN– related condition
  • Sotos syndrome
  • Weaver syndrome
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
GNAS
Autosomal dominant
chr20:g.57429742C>T
NM_001077490.1
c.1235C>T
p.Pro412Leu
Contact

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