Clinical features and genetic analysis of a child with mosaic variegated aneuploidy syndrome / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the clinical phenotype, genetic variant, treatment and prognosis of a child with mosaic variegated aneuploidy syndrome (MVAS).@*METHODS@#Immunological marker screening, chromosomal karyotyping and whole exome sequencing were carried out.@*RESULTS@#The 1-year-11-month old girl has featured severe growth retardation, feeding difficulty, short stature, microcephaly, facial anomalies, scoliosis, visual impairment, hypotonia, chylothorax, and renal lesions. Karyotype analysis of peripheral blood lymphocytes has discovered variegated aneuploidy cells (6/11). DNA sequencing has identified compound heterozygous c.826delG (p.Asp276Metfs*21) and c.2441G>A (p.Arg814His) variants in the BUB1B gene, which were inherited from her father and mother, respectively.@*CONCLUSION@#The compound heterozygous variants of the BUB1B gene probably underlie the pathogenesis in this patient.