title: Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene.
abstract: The authors report two brothers who presented with motor delay and stiffness. The elder boy had auto-mutilation of lips and fingers. Serum uric acid was elevated in both the children. Both the boys had undetectable hypoxanthine-guanine phosphoribosyl transferase activity in hemolysate, confirming the diagnosis of Lesch-Nyhan syndrome. Molecular genetic testing revealed a new mutation in the HPRT1 gene.
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India. sharma.suvasini@gmail.com
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.forename: Rosa Torres
authors.initials: RT
authors.lastname: Jiménez
authors.forename: Satinder
authors.initials: S
authors.lastname: Aneja
authors.forename: Marta G
authors.initials: MG
authors.lastname: Garcia
authors.forename: Gulshan R
authors.initials: GR
authors.lastname: Sethi
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D016368:Frameshift Mutation; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007194:India; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D017384:Sequence Deletion
chemical_list: D005819:Genetic Markers; D007041:Hypoxanthine Phosphoribosyltransferase