Clinical and molecular genetic analysis of a pediatric patient with Lowe syndrome / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic etiology for a child with ocular dysplasia.@*METHODS@#Clinical examination was carried out. Medical history of the child was collected. Genomic DNA was extracted from peripheral blood samples. Chromosomal microarray analysis (CMA) was used to detect potential genomic copy number variations.@*RESULTS@#Ultrasonography revealed cataracts in both eyes of the child. MRI showed increased extracranial space, supratentorial ventricular dilatation, reduced white matter volume, increased T2WI signal and a large occipital cisterna. CMA showed that the patient carried a 249 kb microdeletion at Xq25q26.1 region, namely [hg19]arrXq25q26.1 (128 652 372 - 128 901 629)×0.@*CONCLUSION@#The child was diagnosed with Lowe syndrome, for which the 249 kb microdeletion at Xq25q26.1 is probably accountable.