Objective The objective of this study is to examine the clinical characteristics and genetic etiology of a pediatric patient presenting with purine nucleoside phosphorylase(PNP)deficiency.Methods In April 2021,a patient diag-nosed with PNP deficiency was chosen as the subject of study at the Reproductive Genetics Clinic of Women's Hospital School of Medicine Zhejiang University.The children and their parents underwent family whole exome sequencing and sub-sequent bioinformatics analysis.The identified variants were subsequently confirmed through Sanger sequencing and SNP-Array techniques.Results The complex heterozygous variants,namely the PNP:c.150C＞A variants and the 14q1 1.2 copy number variants,were detected.The confirmation of the inheritance of these two variants was achieved through the utilization of Sanger sequencing and SNP-Array analysis.The results of these analyses indicated that the PNP:c.150C＞A variants were paternally inherited,whereas the 14q1 1.2 copy number variants were maternally inherited.Notably,these variant types were not found in the gnomAD,ClinVar,and HGMD databases.Conclusion The child's genetic etiology can be ascribed to the intricate heterozygous variation resulting from the c.150C＞A variant of the PNP gene and the 14q1 1.2 copy number variation.These discoveries bear noteworthy implications for parental genetic counseling and prenatal diagnosis,while also augmenting the growing repertoire of observed variations in PNP genes.
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