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Article

Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis.

Clinical genetics - 1 Sept 1996

Yamada Y, Suzumori K, Tanemura M, Goto H, Ogasawara N

Abstract excerpt

Complete deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT) causes Lesch-Nyhan syndrome. We examined the HPRT gene mutation for prenatal diagnosis in a Japanese family. A single nucleotide substitution of C to T in exon 3 was identified by direct sequencing analysis of the HPRT gene of a Lesch-Nyhan patient. This substitution resulted in a nonsense mutation, CGA (Arg) to TGA (stop), at codon 51....

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Source

Identifiers

PMID: 8946118
DOI: 10.1111/j.1399-0004.1996.tb02374.x

Genes

CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis.PMID 8946118Read ↗

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Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.Semantic proximity Read ↗

[Analysis of HPRT1 gene variant and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome but no specimen from affected probands].Semantic proximity Read ↗

Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.Semantic proximity Read ↗

Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.Semantic proximity Read ↗

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A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.Semantic proximity Read ↗

Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.Semantic proximity Read ↗

Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease.Semantic proximity Read ↗

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