background participants

Participant 041


SMARCC2
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Male, age 11 with intellectual disability, absent speech, and very happy disposition

Date of Report

Nov 30, 2017

Description

At 11 months old, the participant’s parents noticed that he was delayed developmentally and was unable to sit up on his own. He began walking with a walker at age 3. He was evaluated by neurology and received a brain MRI that showed an abnormality of brain white matter (periventricular leukomalacia). However, follow-up brain MRIs have been normal.

At age 8, the patient started to be able to feed himself using a pincher grasp. Currently he is nonverbal and uninterested in signing or using a communication device.

Overall, he is a very pleasant and happy child and has never developed stranger anxiety.  His demeanor is reminiscent of Angelman syndrome, but his other symptoms do not fit with this condition.

Symptoms / Signs
  • Global developmental delay
  • Intellectual disability
  • Absent speech
  • Abnormal social behavior
  • Conspicuously happy disposition
  • Agitation
  • Repetitive behaviors (stereotypic behavior)
  • Delayed cranial suture closure
  • Abnormality of brain white matter (periventricular leukomalacia)
  • Loss of skin color (generalized hypopigmentation)
  • Downslanted eyes (downslanted palpebral fissures)
  • Eyes turned outward (exotropia)
  • Increased distance between eyes (hypertelorism)
  • Abnormal tear production (alacrima)
  • Thin upper lip (thin vermilion border)
  • Broad length between end of nose and top of lip (broad philtrum)
  • Large ear (macrotia)
  • Recurrent hand flapping
  • Tissue bulge in abdomen (inguinal hernia)
  • Decreased tone (muscular hypotonia)
  • Constipation
  • Abnormal walking (broad-based gait)
  • Toes fused together (2-3 toe syndactyly)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Fragile X syndrome
  • Microdeletion/duplication syndrome
  • Mowat-Wilson syndrome
  • Pitt Hopkins syndrome
  • Prader Willi syndrome
  • Williams syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the patient’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr12: 56566211
NM_003075
c.1833+1G>T
N/A
Contact

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