Your browser doesn't support javascript.
loading
Clinical and genetic analysis of a pedigree affected with cytochrome P450 oxidoreductase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1005-1008, 2020.
Article in Chinese | WPRIM | ID: wpr-827756
ABSTRACT
OBJECTIVE@#To explore the clinical features and molecular basis of a Chinese pedigree with two siblings affected by cytochrome P450 oxidoreductase deficiency (PORD).@*METHODS@#Clinical features of the patients were reviewed, and their genomic DNA was subjected to next generation sequencing (NGS).@*RESULTS@#The two siblings presented peculiar facies, genital hypoplasia and skeletal deformity. NGS revealed that both have carried compound heterozygous variants of the POR gene, namely c.1370G>A and c.517-19_517-10delGGCCCCTGTGinsC, which were respectively inherited from their parents.@*CONCLUSION@#Both siblings were diagnosed with PORD based on sequencing of the POR gene. The newly discovered POR c.517-19_517-10delGGCCCCTGTGinsC has enriched the spectrum of PORD-related genetic variants.
Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article

Similar

MEDLINE

...
LILACS

LIS

Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article