Nov 30, 2017
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
The SMARCC2 gene is involved in chromatin remodeling (Wang et al., 1996).
A change in the SMARCC2 gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.
The participant, a 11-year-old male with intellectual disability, absent speech, and very happy disposition was found to carry the following genetic change in the SMARCC2 gene: c.1833+1G>T.
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.
Some of his other features include:
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