[一个患X连锁隐性遗传性诺里病的中国家系的NDP基因分析]
[Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].
作者信息
Mei Libin, Huang Yanru, Pan Qian, Liang Desheng, Wu Lingqian
机构信息
Hunan Jiahui Genetics Hospital, State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China.
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出版信息
Zhonghua Yan Ke Za Zhi. 2015 May;51(5):360-3.
OBJECTIVE
The purpose of the current research was to investigate the NDP (Norrie disease protein) gene in one Chinese family with Norrie disease (ND) and to characterize the related clinical features.
METHODS
Clinical data of the proband and his family members were collected. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was extracted from peripheral blood leukocytes of 35 family members. Molecular analysis of the NDP gene was performed by polymerase chain reaction and direct sequencing of all exons and flanking regions.
RESULTS
A hemizygous NDP missense mutation c.362G > A (p.Arg121Gln) in exon 3 was identified in the affected members, but not in any of the unaffected family individuals.
CONCLUSIONS
The missense mutation c.362G > A in NDP is responsible for the Norrie disease in this family. This discovery will help provide the family members with accurate and reliable genetic counseling and prenatal diagnosis.
目的
本研究旨在对一个患有诺里病（ND）的中国家庭进行诺里病蛋白（NDP）基因检测，并对相关临床特征进行描述。
方法
收集先证者及其家庭成员的临床资料。对先证者进行全面的眼科检查。从35名家庭成员的外周血白细胞中提取基因组DNA。通过聚合酶链反应和对所有外显子及其侧翼区域进行直接测序，对NDP基因进行分子分析。
结果
在患病成员中鉴定出第3外显子中的一个半合子NDP错义突变c.362G>A（p.Arg121Gln），而在任何未患病的家庭成员中均未发现。
结论
NDP基因中的错义突变c.362G>A导致了该家庭中的诺里病。这一发现将有助于为家庭成员提供准确可靠的遗传咨询和产前诊断。
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