Abstract: Objective To explore the relationship between the clinical phenotype and genotype of microvillus inclusion disease (MVID) and to promote the awareness of MVID. Methods A newborn with MVID was hospitalized and treated in Neonatology Department of ZhuJiang Hospital of Southern Medical University on April 2017. Second-generation sequencing technology was adopted for the gene sequencing of the newborn and her parents on June 2017. Meanwhile one-generation sequencing technology was adopted for the spot mutation detection of her brother. The clinical features, treatment, prognosis and family gene sequencing results were retrospectively analyzed. Results This newborn was female and had a dilated intestinal canal during the prenatal period, who presented diarrhea with yellow-green mucus at 2 days after birth, complicating with polyelectrolyte disorders and metabolic acidosis. The sequencing results showed that there were two nonsense mutations of gene STX3, that were c.424C>T (p.R142) and c.739C>T (p.R247), which inherited from her parents who showed normal phenotype. Her brother was eight years old and proved to be a heterozygote of the c.424C>T (p.R142) of the gene STX3, inherited from their healthy mother. This mutation was first discovered in China. Conclusion The sequencing analysis of STX3 mutation may be helpful for the diagnosis of MVID.
2018, Vol. 6 
