Lesch-Nyhan disease with no HPRT1 gene mutation?
نویسنده
چکیده
منابع مشابه
Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
UNLABELLED Lesch-Nyhan syndrome is an X-linked recessive inborn error of metabolism due to a complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity (OMIM 300322). Partial deficiency of HPRT (OMIM 300323) is characterized by the effects of excess uric acid synthesis and a continuum spectrum of neurological manifestations, without the manifestations of full-blown Le...
متن کاملCRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.
The extent to which non-coding mutations contribute to Mendelian disease is a major unknown in human genetics. Relatedly, the vast majority of candidate regulatory elements have yet to be functionally validated. Here, we describe a CRISPR-based system that uses pairs of guide RNAs (gRNAs) to program thousands of kilobase-scale deletions that deeply scan across a targeted region in a tiling fash...
متن کاملHPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme encoded by the HPRT1 gene. The classic disease phenotype described by Lesch and Nyhan in 1964 includes hyperuricemia, mental retardation, severe motor deficiency, and recurring self-mutilation. Here, we report the case of a family with 4 affecte...
متن کاملNew biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients
BACKGROUND Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt). The residual HGprt activity correlates with the various phenotypes of Lesch-Nyhan (LN) patients and in particular with the different degree o...
متن کاملSmall Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is a rare inborn error of purine metabolism and is characterized by uric acid overproduction along with a variety of neurological manifestations that depend on a degree of the enzymatic deficiency. Inheritance of HPRT deficiency is X-linked recessive; thus, males are generally more affected and heterozygous females are carrier...
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عنوان ژورنال:
- Revista clinica espanola
دوره 214 8 شماره
صفحات -
تاریخ انتشار 2014