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Participant 042

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Male, age 17, with short stature, intellectual disability, heart disease, seizures, low testosterone, episodes of sporadic high and low blood pressure, hypogonadism, slow cognitive function, thrombocytopenia, kidney disease, osteoporosis, and spondyloarthritis caused by a change in the SPOP gene

Date of Report

Dec 05, 2017


Before the participant was born, he was found to have heart problems (borderline hypoplastic left heart variant, coarctation of the aorta) on an ultrasound. At birth, he had severe heart failure and was started on oxygen. He spent three weeks in the neonatal intensive care unit (NICU). At this time he also had jaundice and difficulty growing (failure to thrive).

At 2 months of age, the participant struggled with reflux and was diagnosed with a hole in his heart (atrial septal defect) with signs of myopathic biventricular dysfunction and coarctation of the aorta. He underwent surgery to repair this at 3 months of age. At 3 years, he was found to have weakness of the left side of his body (hemiparesis) and was slow to meet his developmental milestones.

When the participant was 11 years old, he started having seizures. EEG shows sharp spikes and slowing in the temporal lobe at that time. A few years later at age 14, he had a cardiac arrest after dental surgery. Afterwards he had a severe case of delirium. He had to learn to walk, talk, eat, and swallow again. One year ago he was diagnosed with unobstructed sleep apnea needing oxygen at night.

Recently the participant started having episodes of very sporadic blood pressures from high to low. These episodes come and go during the day and night. He has chronic stomach pain, chronic constipation, and occasional bouts of headaches. He has new symptoms of spondyloarthritis, nephrocalcinosis, thrombocytopenia, and osteopenia. In addition to these problems, he is also shorter than average (4’9”) and has low testosterone. He receives testosterone injections, but these have not helped with his growth.

Symptoms / Signs
  • Severe global developmental delay
  • Intellectual disability
  • Memory impairment
  • Short attention span
  • Difficulty speaking (dysarthria)
  • Seizures (myoclonus)
  • Dizziness (vertigo)
  • Sleep disturbances (insomnia and central sleep apnea)
  • Migraine
  • Anxiety
  • Fatigue
  • Aggressive behavior
  • Depression
  • Pain
  • Brain abnormalities (abnormality of the corpus callosum, hypoplasia of the corpus callosum, abnormality of the cerebral ventricles, ventriculomegaly)
  • Abnormal facial features (narrow forehead, nevus flammeus of the forehead, low anterior hairline, sparse eyebrow, deeply set eye, hypertelorism, lacrimal duct stenosis, prominent nasal bridge, posteriorly rotated ears, overfolded helix, exaggerated cupid’s bow, thick vermilion border, short philtrum, downturned corners of mouth, wide mouth, hyperplasia of the maxilla, retrognathia)
  • Difficulty growing (failure to thrive)
  • Short stature
  • Decreased testosterone
  • Decreased body weight
  • Abnormal skin findings (dark patch of skin (hypermelanotic macule), red spot on skin (petechiae), eczema)
  • Excessive sweating (hyperhidrosis)
  • Visual impairment (myopia)
  • Nosebleeds (spontaneous, recurrent epistaxis)
  • Abnormal teeth (carious teeth, abnormality of dental enamel)
  • Difficulty swallowing (dysphagia)
  • Acid reflux (gastroesophageal reflux)
  • Abnormalities of the heart (atria septal defect, coarctation of aorta, congenital malformation of the left heart, subaortic stenosis, tricuspid regurgitation, abnormality of the left ventricle, congenital malformation of the great arteries, hypoplastic left heart, cardiac arrest)
  • Low and High blood pressure (hypotension and hypertension)
  • Abdominal pain
  • Sudden drop in heart rate and blood pressure (syncope)
  • Excess fluid in lungs (pulmonary edema)
  • Respiratory failure
  • Asthma
  • Chronic constipation
  • Poor appetite
  • Nausea
  • Curvature of the spine (scoliosis and thoracolumbar scoliosis)
  • Abnormality of the vertebral column (spondylolysis and spondylolisthesis)
  • Increased carrying angle
  • Curved pinky finger (clinodactyly of the 5th finger)
  • Muscle pain (myalgia)
  • Low muscle tone (muscular hypotonia)
  • Joint hypermobility
  • Difficulty walking (gait imbalance and gait disturbance)
  • Joint pain (arthralgia)
  • Muscle weakness
  • Weak and brittle bones (osteoporosis)
  • Low bone density (osteopenia)
  • Abnormal movements (dystonia, chorea, involuntary movements, hand tremor)
  • Weakness of left side of body (hemiparesis)
  • Abnormality of the kidney (hypocitraturia and nephrocalcinosis)
  • Abnormality of the genitals (phimosis, hypogonadism, primary testicular failure)
  • Delayed puberty
  • Flat feet (pes planus)
  • Abnormal blood findings (anemia and low blood platelet count (thrombocytopenia), excessive bilirubin in blood (hyperbilirubinemia))
  • Sleep disturbances (insomnia and central sleep apnea)
  • Vitamin D deficiency
  • Chronic anemia
Current Treatments
  • CBD, Clonazepam, Diastat – seizures
  • Liquid iron- chronic anemia
  • Methotrexate- spondyloarthritis
  • Potassium citrate- kidney
Prior Treatments
  • Depakote, Onfi, Zonegran, Trileptal, Keppra – seizures
Considered treatments
Previously Considered Diagnoses
  • 22q11.2
  • Cowden syndrome
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Mitochondrial disease
  • Single gene disorder (negative exome sequencing)
Other Photographs
Genetic Variants of Interest

In 2020, clinicians and researchers identified the following de novo genetic change to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant

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


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