On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition. (Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.)
Does this patient sound like someone you know?
|Date of Report||July 1, 2016|
|Full Gene Name||Nucleus accumbens associated 1|
|Location|| Chromosome 19 (19p13.2)
Click to enlarge ideogram in new window (generated using the NCBI Genome Decoration Page )
|Function||The NACC1 gene codes for a protein involved in transcriptional repression (Korutla et al., 2002 ).|
|Database Links||GeneCards: GC19P013117 NCBI Gene: 112939 OMIM: 610672 UniProtKB/Swiss-Prot: Q96RE7|
|Clinical Significance|| A change in the NACC1 gene was identified in a UDN participant and other patients with similar symptoms (Schoch et al, 2017 ).
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.
|Gene||Inheritance Pattern||Position||Transcript||DNA Change||Protein Change|
|NACC1||unknown||Chr19: 13246913||NM_052876.3||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:
Do you think this profile matches someone you know? Contact us via email or phone.