Nov 27, 2017
The HGSNAT gene provides instructions to produce an enzyme (N-acetyltransferase) that is located in the lysosome, the part of the cell that helps to break down different types of molecules (Genetics Home Reference).
Changes in the HGSNAT gene were identified in a UDN participant. The participant, a 40-year-old male with mucopolysaccharidosis type IIIC (Sanfilippo C) was found to carry the following genetic changes in the HGSNAT gene: c.1042G>A, c.1267G>T / p.V348M, p.G423W.
The participant’s parents became concerned with his development when he was about 3-4 years old. At this time, his speech was delayed and he was learning a bit slower than other children in school. He was able to graduate from high school, but had difficulty with college level work. Otherwise he was generally healthy and had normal development. He moved into a group home during a transitional period in his mid-twenties in which his frustration and inability to perform created job issues and strained family relationships.
At the age of 34, he had a trance-like episode with staring and drooling. Initially this was thought to be a seizure, but an EEG was normal. This episode marked the start of a significant decline where the participant lost his ability to process information and communicate complex ideas. He also started to experience a significant physical decline with poor coordination and difficulty with daily activities.
Some of his other features include:
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