Jul 01, 2016
Nucleus accumbens associated 1
The NACC1 gene codes for a protein involved in transcriptional repression (Korutla et al., 2002).
The participant, a 20 month old male with seizures, cataracts, a small head size (microcephaly), and global developmental delay was found to carry the following de novo genetic variant in the NACC1 gene: c.892C>T/p.R298W.
During the first few months of life, the patient was noticed to have slow growth and developmental delay. He was not visually tracking, focusing on faces, or responding to some sounds. At 8 months, he was found to have cataracts in both eyes and was diagnosed with infantile spasms. A brain MRI showed mild delays in myelination and mildly decreased brain volume with slightly large ventricles. The patient’s parents also report that when he gets angry or upset, like when trying to urinate or have a bowel movement, he will hold his breath, turn blue, and pass out.
Some of his other features include:
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