Nov 18, 2016
Solute carrier family 35 member A2
The SLC35A2 gene codes for a nucleotide sugar transporter that is important in the glycosylation process (Maszczak-Seneczko et al., 2015).
Changes in the SLC35A2 gene have been found in individuals with congenital disorder of glycosylation, type IIm.
A change in the SLC35A2 gene was identified in a UDN participant with features of this condition.
The participant, a 2 year old female, was found to carry the following genetic change in the SLC35A2 gene: c.245G>T/p.C82F.
Shortly after birth, the patient was found to have pyloric stenosis, a condition in which muscles block food from entering the small intestine. She underwent surgery to correct this at 9 weeks. Currently she has reduced functioning of her stomach and intestines (reduced gastric and intestinal motility) and constipation. She has had trouble gaining weight.
At 3 months, the patient was diagnosed with infantile spasms, which have not been controlled with medication. A brain MRI showed a decrease of white matter and vermis in the brain (progressive diffuse atrophy of the hemispheric white matter and vermis). Her left leg is also bigger and longer than her right leg (hemi-hypertrophy of left leg).
Developmentally, the patient has stopped gaining milestones, but has not regressed. She often has difficulty sleeping through the night.
Some of her other features include:
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