PMC9277209_01
A 5-year-old girl with Vici syndrome.
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Her MRI test showed agenesis of the corpus callosum and her metabolic test reported normal (Figure 1).
Heterozygous mutation c.A3206G (p.Y1069C; Het) on EPG5 gene has been detected in father (F) and in mother (M) of this case (5-year-old girl) by DNA sequencing of the PCR-amplified product of the EPG5 exon 17. Therefore, her parents are the carrier of this mutation. Since the parent found to be the carrier of the above mutation, the patient is very likely affected with Vici syndrome. Heterozygous mutation c.A3206G (p.Y1069C; Het) on EPG5 gene has been detected in the 5-year-old girl.
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DNA sequencing of the PCR-amplified product of the EPG5 exon 17 showed that her parents were heterozygote for this variant (Figure 2).