3 例 Lesch-Nyhan 综合征患儿及其父母/姐姐 基因检测分析.

Objective To analyze the genetic testing results of children with Lesch-Nyhan syndrome and their par⁃ ents/sisters，and to summarize their genetic characteristics. Methods The subjects were Case 1，Case 2 and their par⁃ ents（Case 1 and Case 2 were brothers），Case 3（male），the parents of Case 3 and his two sisters. The peripheral venous blood of the subjects was collected for high-throughput gene whole-exome sequencing，and the genetic status of the chil⁃ dren and their parents/sisters was analyzed. Results Cases 1 and 2 were brothers，and both had the hypoxanthine-gua⁃ nine phosphoribosyltransferase gene chrX：exon3 c. 236T>C，p. L79P mutation on the X chromosome，and the ACMG pathogenic variant was classified as possible pathogenic；the mother of the child had a heterozygous mutation at this locus， and the father had a wild-type gene at this locus. Case 3 had the X chromosome HPRT1 gene chrX exon3c. 197G>A，p. C66Y mutation，and the pathogenic variant was classified as possible pathogenic；the mother and eldest sister of the child had heterozygous for this locus，while these loci of the father and the second sister were wild-type. Conclusions The main clinical manifestations of children with Lesch-Nyhan syndrome are developmental delay，abnormal muscle tone and self-injury behavior. The mutation in exon 3 of HPRT1 gene may be the cause of Lesch-Nyhan syndrome，and the mu⁃ tation gene is inherited from the mother. [ABSTRACT FROM AUTHOR]