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Article

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Human genetics - 1 Jan 2011

Sampat Radhika, Fu Rong, Larovere Laura E, Torres Rosa J, Ceballos-Picot Irene, Fischbach Michel, de Kremer Raquel, Schretlen David J, Puig Juan Garcia, Jinnah H A

Abstract excerpt

Lesch-Nyhan disease is a neurogenetic disorder caused by mutation of the HPRT1 gene on the X chromosome. There is significant variation in the clinical phenotype, with more than 300 different known mutations. There are few studies that have addressed whether similar mutations result in similar phenotypes across different patients because hypoxanthine-guanine phosphoribosyltransferase (HGprt) deficiency is rare,...

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Identifiers

PMID: 20981450
DOI: 10.1007/s00439-010-0901-9
PMCID: PMC3034646

Genes

HPRT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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