Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation

Gene

Volumn 511, Issue 2, 2012, Pages 306-307

  Torres, Rosa J ^a   Garcia, Marta G ^a   Puig, Juan G ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Carrier diagnosis; Expression; HPRT; Lesch Nyhan; Prenatal

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ARTICLE; BLOOD CHEMISTRY; BLOOD SAMPLING; CASE REPORT; CHILD; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DNA METHYLATION; GENE AMPLIFICATION; GENE EXPRESSION REGULATION; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPERURICEMIA; INFANT; LESCH NYHAN SYNDROME; NEPHROLITHIASIS; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PSYCHOMOTOR RETARDATION; REAL TIME POLYMERASE CHAIN REACTION; RISK FACTOR;

HETEROZYGOTE DETECTION; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INFANT; LESCH-NYHAN SYNDROME; MUTATION; PRENATAL DIAGNOSIS; REAL-TIME POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 84868194460     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.121     Document Type: Article

References (9)

1. Dawson P.A., Gordon R.B., Keough D.T., Emmerson B.T. Normal HPRT coding region in a male with gout due to HPRT deficiency. Mol. Genet. Metab. 2005, 85:78-80.
2. García M.G., Torres R.J., Prior C., Puig J.G. Normal HPRT coding region in complete and partial HPRT deficiency. Mol. Genet. Metab. 2008, 94:167-172.
3. Garcia M.G., Torres R.J., Puig J.G. Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region. Nucleosides Nucleotides Nucleic Acids 2010, 29:301-305.
4. Jinnah H.A., et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 2006, 129:1201-1217.
5. Jinnah H.A., et al. Attenuated variants of Lesch-Nyhan disease. Brain 2010, 133:671-689.
6. Lesch M., Nyhan W.L. A familial disorder of uric acid metabolism and central nervous system. Am. J. Med. 1964, 36:561-570.
7. Puig J.G., et al. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore) 2001, 80:102-112.
8. Seegmiller J.E., Rosenbloom F.M., Kelley W.N. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 1967, 155:1682-1684.
9. Torres R.J., Puig J.G., Ceballos-Picot I. Clinical utility gene card for: Lesch-Nyhan syndrome. Eur. J. Hum. Genet. 2011, 19:118-120.