Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

RONG FU; CEBALLOS PICOT I; ROSA J. TORRES; LAURA E. LAROVERE; YASUKAZU YAMADA; KHUE V. NGUYEN; MADHURI HEGDE; JASPER E. VISSER; DAVID J. SCHRETLEN; WILLIAM L. NYHAN,; JUAN G. PUIG; PATRICK J. O?NEILL; H. A. JINNAH

OXFORD UNIV PRESS

Lugar: Oxford; Año: 2014 p. 1282 - 1282

p>Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype/phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an X-linked recessive disorder that is caused by a wide variety of mutations in 30 the HPRT1 gene. The gene encodes hypoxanthine-guanine phosphoribosyl transferase, an enzyme involved in purine metabolism. The fine structure of enzyme has been established by crystallography studies, and its function can be measured with very precise biochemical assays. This rich knowle