RESUMEN
OBJECTIVE: To explore the genetic basis for a patient with autosomal dominant retinitis pigmentosa (RP). METHODS: A male patient with RP treated at Gansu Provincial Maternal and Child Health Care Hospital in September 2019 was selected as the study subject. Clinical data was collected. Peripheral blood samples of the patient and his parents were subjected to whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The patient, a 29-year-old male, developed night blindness, amblyopia, visual field defects and optic disc abnormalities since childhood. Gene sequencing revealed that he has harbored a heterozygous c.942G>C (p.Lys314Asn) variant of the IMPDH1 gene, which was inherited from his mother, whilst his father was of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.942G>C variant was predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP1). CONCLUSION: The c.942G>C (p.Lys314Asn) variant in the IMPDH1 gene probably underlay the RP in this patient.
Asunto(s)
Retinitis Pigmentosa , Adulto , Femenino , Humanos , Masculino , Biología Computacional , Genómica , Heterocigoto , IMP Deshidrogenasa , Madres , Mutación , Retinitis Pigmentosa/genéticaRESUMEN
The deficiency of the DNA repair mechanism may increase DNA damage in germ cells, leading to abnormal spermatogenesis and infertility. High-fidelity DNA repair is essential for maintaining the integrity and quality of the germ cell genome. Therefore, the DNA damage repair system is a key factor in the sperm production process. Abnormal function of the genes involved in DNA damage repair of germ cells may reduce the number and induce the abnormalities of sperm. This article reviews the relationship of single nucleotide polymorphisms of the DNA damage repair genes XRCC1, OGG1, ERCC1 and ERCC2 with male infertility.
