[磷酸甘油酸脱氢酶缺乏症患者的基因与表型分析]
[Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency].
作者信息
Tao Zhiyan, Lu Fang
机构信息
Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan 640041, China. lufang@wchscu. cn.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Feb 10;38(2):170-173. doi: 10.3760/cma.j.cn511374-20200622-00462.
OBJECTIVE
To explore the genetic basis for a child with ocular anomaly, microcephaly, growth retardation and intrauterine growth restriction.
METHODS
The patient underwent ophthalmologic examinations including anterior segment photography, fundus color photography, and fundus fluorescein angiography. The patient and her parents were subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.
RESULTS
The patient was found to have bilateral persistent pupillary membrane and coloboma of inferior iris, in addition with macular dysplasia and radial pigmentation near the hemal arch of the temporal retina. She was found to have carried compound heterozygous missense variants of the PHGDH gene, namely c.196G>A and c.1177G>A, which were respectively inherited from her father and mother. Bioinformatic analysis suggested both variants to be pathogenic.
CONCLUSION
The patient was diagnosed with phosphoglycerate dehydrogenase deficiency. Above finding has enriched the phenotypic spectrum of the disease with ocular manifestations.
目的
探讨一名患有眼部异常、小头畸形、生长发育迟缓及宫内生长受限患儿的遗传基础。
方法
该患者接受了眼科检查，包括眼前节照相、眼底彩色照相和眼底荧光血管造影。患者及其父母接受了全外显子组测序。候选变异通过桑格测序和生物信息学分析进行验证。
结果
该患者被发现患有双侧永存瞳孔膜和虹膜下部缺损，此外还有黄斑发育不良和颞侧视网膜血管弓附近的放射状色素沉着。她被发现携带PHGDH基因的复合杂合错义变异，即c.196G>A和c.1177G>A，分别遗传自她的父亲和母亲。生物信息学分析表明这两个变异均为致病性变异。
结论
该患者被诊断为磷酸甘油酸脱氢酶缺乏症。上述发现丰富了该疾病伴有眼部表现的表型谱。
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