一例Lowe综合征男婴的OCRL基因突变分析  

Analysis of OCRL gene mutation in a male infant with Lowe syndrome

作　　者：陈素琴[1] 张新愉[2] 陈路明[1] 田秋红[1] 蒋玮莹[1] 

机构地区：[1]中山大学中山医学院医学遗传学教研室,广州510080 [2]中山大学中山医学院中山眼科中心,广州510080

出　　处：《中华医学遗传学杂志》2014年第2期223-227,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81200402、81200670）;广东省医学科研基金（A2012169）;广东省科技计划项目（20118050400022）

摘　　要：目的鉴定1例眼脑肾综合征（也称Lowe综合征）男婴OCRL基因的致病性突变。方法收集患儿的临床资料进行综合分析。提取患儿及其父母的外周血DNA，PCR扩增OCRL基因的全部24个外显子及剪接位点序列，对PCR产物进行直接测序。结果患儿携带了OCRL基因第15外显子c．1499G〉A（P．R500Q）突变；该突变遗传自母亲，母亲为该突变的杂合子。该突变已被证实可引起重型Lowe综合征，但尚未在国内患者中报道。结论OCRL基因c．1499G〉A（P．R500Q）突变为该患儿的致病性突变；该研究进一步证实c．1499G〉A突变与严重表型相关，为基因型一表型的研究提供了依据。Objective To identify pathological mutation in a Chinese male infant featuring oculocerebrorenal syndrome （also called Lowe syndrome）. Methods Clinical data of the patient were collected. DNA was extracted from peripheral blood of the infant and his parents. All of the 24 exons and intron-exon splice sites of OCRL gene were amplified with PCR. Mutations were detected by direct sequencing the PCR products. Results The infant was found to have carried a c. 1499G〉A （p. R500Q） mutation in exon 15 of the OCRL gene, which was transmitted from his mother, who was heterozygous for the same mutation. The c. 1499G〉A mutation, discovered in Chinese population for the first time, has been reported to cause severe Lowe syndrome in other ethnic populations. Conclusion The c. 1499G 〉A mutation of the OCRL gene is probably responsible for the disease in the patient. Further study of this mutation may facilitate delineation of the genotype-phenotype correlation of this disease.

关 键 词：Lowe综合征 OCRL基因 突变 

分 类 号：R725.9[医药卫生—儿科]