Novel OCRL mutations in Chinese children with Lowe syndrome
Novel OCRL mutations in Chinese children with Lowe syndrome
复制标题
中国 Lowe 综合征儿童中新的 OCRL 突变
DOI：
10.1007/s12519-013-0406-4
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发表时间：
2013-02-01
影响因子：
8.7
通讯作者：
Yang, Yan-Ling
中科院分区：
文献类型：
--
作者：
Zhang, Yan-Qin;Wang, Fang;Yang, Yan-Ling
Lowe综合征是一种罕见的X连锁隐性遗传性疾病，由OCRL基因突变引起，该基因编码肌醇多磷酸-5-磷酸酶。本文回顾性分析了3例无血缘关系的Lowe综合征患者的临床资料，这些患者均经眼部、神经系统和肾脏的异常而确诊。对这三例患者及其家族成员进行了OCRL基因的遗传学分析，发现了三种OCRL基因突变。其中两个突变，外显子18中的g.1897delT（患者1）和外显子15中的g.1470delG（患者2），是新的。在患者3中发现了外显子15的错义突变（p.Y513C），这是以前报道过的。所有患者的母亲均为各自突变的杂合子携带者。3名中国儿童通过临床和遗传学分析被诊断为Lowe综合征。在OCRL基因中发现了两个新的突变。
Lowe syndrome is a rare X-linked recessive hereditary disease caused by mutations of the OCRL gene, which encodes an inositol polyphosphate-5-phosphatase. The disease is clinically characterized by congenital cataracts, psychomotor retardation, and proximal tubulopathy.We retrospectively reviewed three unrelated Chinese patients with Lowe syndrome, clinically diagnosed by the abnormalities of eyes, nervous system, and kidneys. Genetic analysis of the OCRL gene was done for the three patients as well as their family members.Three OCRL gene mutations were detected in our study. Two of the mutations, g.1897delT in exon 18 (patient 1) and g.1470delG in exon 15 (patient 2), were novel. A missense mutation (p.Y513C) in exon 15, which had been reported previously, was found in patient 3. The mothers of all patients were heterozygous carriers of the respective mutations.Three Chinese children were diagnosed with Lowe syndrome through clinical and genetic analyses. And two novel mutations in the OCRL gene were identified.