Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency.
10.3760/cma.j.cn511374-20200622-00462
- Author:
Zhiyan TAO
1
;
Fang LU
Author Information
1. Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan 640041, China. lufang@wchscu. cn.
- Publication Type:Journal Article
- MeSH:
Carbohydrate Metabolism, Inborn Errors/genetics*;
Child;
Coloboma;
Female;
Humans;
Microcephaly/genetics*;
Mutation;
Phenotype;
Phosphoglycerate Dehydrogenase/genetics*;
Psychomotor Disorders/genetics*;
Seizures/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(2):170-173
- CountryChina
- Language:Chinese
-
Abstract:
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.
