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Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency / 中华医学遗传学杂志
Article in Chinese | WPRIM | ID: wpr-879548
Responsible library: WPRO
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Psychomotor Disorders / Seizures / Female / Humans / Carbohydrate Metabolism, Inborn Errors / Child / Coloboma / Phosphoglycerate Dehydrogenase / Whole Exome Sequencing Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Psychomotor Disorders / Seizures / Female / Humans / Carbohydrate Metabolism, Inborn Errors / Child / Coloboma / Phosphoglycerate Dehydrogenase / Whole Exome Sequencing Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article