title: Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.
abstract: We explored the feasibility of applying gene diagnosis in prenatal diagnosis by analysis of hypoxanthine-guanine phosphoribosyltransferase-1 (HPRT1) gene mutation in a Chinese Lesch-Nyhan family. A homozygous mutation of p.R170X (c.508C＞T) in HPRT1 gene was detected in the proband, and a heterozygous mutation of p.R170X was detected in his mother. This mutation failed to be found in the 50 unrelated healthy individuals. Prenatal diagnosis indicated that the foetus was male and also carried p.R170X (c.508C＞T) mutation, same as the proband. Parents of the foetus decided termination of pregnancy, and the result of gene analysis for the aborted tissue was consistent with that of prenatal diagnosis. We can see that Lesch-Nyhan syndrome (LNS) is caused by non-sense mutation p.R170X（c.508C＞T）in HPRT1 gene in this family. Prenatal gene diagnosis is a valid strategy to prevent LNS because it can avoid the birth of LNS foetuses.
authors.affiliation: a Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
authors.forename: N
authors.initials: N
authors.lastname: Liu
authors.affiliation: b Department of Pediatrics , the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
authors.forename: Z-H
authors.initials: ZH
authors.lastname: Zhuo
authors.affiliation: b Department of Pediatrics , the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
authors.forename: H-L
authors.initials: HL
authors.lastname: Wang
authors.affiliation: a Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
authors.forename: X-D
authors.initials: XD
authors.lastname: Kong
authors.affiliation: c Department of Obstetrics and Gynecology , the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
authors.forename: H-R
authors.initials: HR
authors.lastname: Shi
authors.affiliation: a Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
authors.forename: Q-H
authors.initials: QH
authors.lastname: Wu
authors.affiliation: a Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
authors.forename: M
authors.initials: M
authors.lastname: Jiang
mesh_terms: D044466:Asian People; D004252:DNA Mutational Analysis; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male; D011296:Prenatal Diagnosis
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase
keywords: Gene sequencing; HPRT1 gene; Lesch–Nyhan syndrome; prenatal diagnosis