Analysis of IQSEC2 gene variant in a child with X-linked mental retardation / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease.@*METHODS@#The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics.@*RESULTS@#The child has presented with global developmental delay, particularly in fine motor skill and language development, in addition with intellectual disability. Genetic testing revealed that she has harbored a heterozygous c.1861dup variant of the IQSEC2 gene, which was not detected in either parent.@*CONCLUSION@#The de novo c.186ldup variant of the IQSEC2 gene probably underlay the X-linked mental retardation in this child. Above finding has, expanded the spectrum of IQSEC2 gene mutations and provide a basis for the diagnosis of similar cases.