一例Lowe综合征患儿的临床及分子遗传学诊断

Clinical and molecular genetic analysis of a pediatric patient with Lowe syndrome

目的 对1例双眼发育异常,疑为Lowe综合征患儿进行临床和分子遗传学分析,以明确其可能的遗传学病因.方法 对患儿进行临床检查,提取外周血DNA,应用染色体微阵列分析(chromosome microarray analysis,CMA)检测患儿全基因组拷贝数变异.结果 超声提示患儿双眼白内障,头部磁共振成像提示脑外间隙增宽、幕上脑室扩张、脑白质容积减小、T2WI信号增高、大枕大池;CMA检测显示患儿染色体Xq25q26.1区段存在249 kb微缺失:[hg19]arrXq25q26.1(128 652 372~128 901 629)×0.结论 该患儿为Lowe综合征,染色体Xq25q26.1区段249 kb微缺失为该患儿的遗传学病因.

Objective To explore the genetic etiology for a child with ocular dysplasia.Methods Clinical examination was carried out and medical history of the child was collected.Genomic DNA was extracted from the peripheral blood sample,chromosomal microarray analysis(CMA)was used to detect potential whole genome copy number variations.Results Ultrasound revealed cataracts in both eyes.MRI showed wider extracranial space,supratentorial ventricular dilatation,decreased white matter volume,increased T2WI signal and a large occipital cisterna.CMA showed that the patient had a 249 kb microdeletion in Xq25q26.1 region[hg19]arrXq25q26.1(128 652 372-128 901 629)×0.Conclusion The child was diagnosed with Lowe syndrome,for which the 249 kb microdeletion in Xq25q26.1 is probably the cause.