Nov 09, 2017
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
The SEPSECS gene codes for an enzyme important in the formation of a transfer RNA (tRNA). This tRNA is involved in the production of a protein building block called selenocysteine (Genetics Home Reference).
Changes in the SEPSECS gene were identified in a UDN participant with pontocerebellar hypoplasia, type 2D. She was found to carry the following genetic changes in the SEPSECS gene: c.808dupG & a splicing defect.
At birth, the patient had low muscle tone (hypotonia) and poor head control. She was initially able to breast feed, but stopped at the age of 7 months. At 8 months, an MRI showed abnormal brain findings (cerebellar atrophy). She was admitted to the hospital at the age of 10 months for sleep problems and abnormal breathing (stridor).
Currently the patient has developmental delay and still struggles with head control. She does recognize her mother and has a social smile, but appears to have vision impairment (cortical visual impairment). She also sweats a lot and needs a G tube for feeding. At times, she has low blood glucose levels (hypoglycemia).
Some of her other features include:
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