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  1 / 1179 MEDLINE  
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[PMID]:29185864
[Au] Autor:Nguyen KV; Naviaux RK; Nyhan WL
[Ad] Endereço:a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California, San Diego , CA , USA.
[Ti] Título:Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
[So] Source:Nucleosides Nucleotides Nucleic Acids;36(11):704-711, 2017 Nov 02.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel point mutation that led to HGprt-related neurological dysfunction (HND) in a family in which there was a missense mutation in exon 6 of the coding region of the HPRT1 gene: g.34938G>T, c.403G>T, p.D135Y. Molecular diagnosis is consistent with the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
[Mh] Termos MeSH primário: Hipoxantina Fosforribosiltransferase/genética
Síndrome de Lesch-Nyhan/enzimologia
Síndrome de Lesch-Nyhan/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Sequência de Bases
Pré-Escolar
Éxons/genética
Feminino
Seres Humanos
Hipoxantina Fosforribosiltransferase/metabolismo
Masculino
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180101
[Lr] Data última revisão:
180101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171130
[St] Status:MEDLINE
[do] DOI:10.1080/15257770.2017.1395037


  2 / 1179 MEDLINE  
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[PMID]:28712454
[Au] Autor:Gasperini M; Findlay GM; McKenna A; Milbank JH; Lee C; Zhang MD; Cusanovich DA; Shendure J
[Ad] Endereço:Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: gasperim@uw.edu.
[Ti] Título:CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.
[So] Source:Am J Hum Genet;101(2):192-205, 2017 Aug 03.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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 fashion ("ScanDel"). We applied ScanDel to HPRT1, the housekeeping gene underlying Lesch-Nyhan syndrome, an X-linked recessive disorder. Altogether, we programmed 4,342 overlapping 1 and 2 kb deletions that tiled 206 kb centered on HPRT1 (including 87 kb upstream and 79 kb downstream) with median 27-fold redundancy per base. We functionally assayed programmed deletions in parallel by selecting for loss of HPRT function with 6-thioguanine. As expected, sequencing gRNA pairs before and after selection confirmed that all HPRT1 exons are needed. However, HPRT1 function was robust to deletion of any intergenic or deeply intronic non-coding region, indicating that proximal regulatory sequences are sufficient for HPRT1 expression. Although our screen did identify the disruption of exon-proximal non-coding sequences (e.g., the promoter) as functionally consequential, long-read sequencing revealed that this signal was driven by rare, imprecise deletions that extended into exons. Our results suggest that no singular distal regulatory element is required for HPRT1 expression and that distal mutations are unlikely to contribute substantially to Lesch-Nyhan syndrome burden. Further application of ScanDel could shed light on the role of regulatory mutations in disease at other loci while also facilitating a deeper understanding of endogenous gene regulation.
[Mh] Termos MeSH primário: Sistemas CRISPR-Cas/genética
Regulação da Expressão Gênica/genética
Hipoxantina Fosforribosiltransferase/genética
Sequências Reguladoras de Ácido Nucleico/genética
Deleção de Sequência/genética
[Mh] Termos MeSH secundário: Linhagem Celular
Células HEK293
Seres Humanos
Hipoxantina Fosforribosiltransferase/biossíntese
Síndrome de Lesch-Nyhan/genética
RNA Guia/genética
Tioguanina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA, Guide); EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase); FTK8U1GZNX (Thioguanine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE


  3 / 1179 MEDLINE  
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[PMID]:28524722
[Au] Autor:Nguyen KV; Silva S; Troncoso M; Naviaux RK; Nyhan WL
[Ad] Endereço:a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California , San Diego , California , USA.
[Ti] Título:Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
[So] Source:Nucleosides Nucleotides Nucleic Acids;36(7):452-462, 2017 Jul 03.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon 2 and exon 3 respectively, in the HGprt enzyme protein from different members of two Chiloé Island families. Molecular analysis has revealed the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
[Mh] Termos MeSH primário: Hipoxantina Fosforribosiltransferase/genética
Ilhas
Síndrome de Lesch-Nyhan/enzimologia
Síndrome de Lesch-Nyhan/genética
Mutação
Linhagem
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sequência de Bases
Chile
Éxons/genética
Feminino
Seres Humanos
Masculino
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170520
[St] Status:MEDLINE
[do] DOI:10.1080/15257770.2017.1315434


  4 / 1179 MEDLINE  
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[PMID]:28282408
[Au] Autor:Zennaro C; Tonon F; Zarattini P; Clai M; Corbelli A; Carraro M; Marchetti M; Ronda L; Paredi G; Rastaldi MP; Percudani R
[Ad] Endereço:Department of Medical, Surgery and Health Sciences, Università degli Studi di Trieste, Trieste, Italy.
[Ti] Título:The renal phenotype of allopurinol-treated HPRT-deficient mouse.
[So] Source:PLoS One;12(3):e0173512, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Excess of uric acid is mainly treated with xanthine oxidase (XO) inhibitors, also called uricostatics because they block the conversion of hypoxanthine and xanthine into urate. Normally, accumulation of upstream metabolites is prevented by the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme. The recycling pathway, however, is impaired in the presence of HPRT deficiency, as observed in Lesch-Nyhan disease. To gain insights into the consequences of purine accumulation with HPRT deficiency, we investigated the effects of the XO inhibitor allopurinol in Hprt-lacking (HPRT-/-) mice. Allopurinol was administered in the drinking water of E12-E14 pregnant mothers at dosages of 150 or 75 µg/ml, and mice sacrificed after weaning. The drug was well tolerated by wild-type animals and heterozygous HPRT+/- mice. Instead, a profound alteration of the renal function was observed in the HPRT-/- model. Increased hypoxanthine and xanthine concentrations were found in the blood. The kidneys showed a yellowish appearance, diffuse interstitial nephritis, with dilated tubules, inflammatory and fibrotic changes of the interstitium. There were numerous xanthine tubular crystals, as determined by HPLC analysis. Oil red O staining demonstrated lipid accumulation in the same location of xanthine deposits. mRNA analysis showed increased expression of adipogenesis-related molecules as well as profibrotic and proinflammatory pathways. Immunostaining showed numerous monocyte-macrophages and overexpression of alpha-smooth muscle actin in the tubulointerstitium. In vitro, addition of xanthine to tubular cells caused diffuse oil red O positivity and modification of the cell phenotype, with loss of epithelial features and appearance of mesenchymal characteristics, similarly to what was observed in vivo. Our results indicate that in the absence of HPRT, blockade of XO by allopurinol causes rapidly developing renal failure due to xanthine deposition within the mouse kidney. Xanthine seems to be directly involved in promoting lipid accumulation and subsequent phenotype changes of tubular cells, with activation of inflammation and fibrosis.
[Mh] Termos MeSH primário: Alopurinol/farmacologia
Síndrome de Lesch-Nyhan/tratamento farmacológico
Nefrite/tratamento farmacológico
Xantina Oxidase/antagonistas & inibidores
Xantina/metabolismo
[Mh] Termos MeSH secundário: Animais
Hipoxantina Fosforribosiltransferase/genética
Síndrome de Lesch-Nyhan/genética
Síndrome de Lesch-Nyhan/metabolismo
Síndrome de Lesch-Nyhan/patologia
Camundongos
Camundongos Knockout
Nefrite/genética
Nefrite/metabolismo
Nefrite/patologia
Xantina Oxidase/genética
Xantina Oxidase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
1AVZ07U9S7 (Xanthine); 63CZ7GJN5I (Allopurinol); EC 1.17.3.2 (Xanthine Oxidase); EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170311
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0173512


  5 / 1179 MEDLINE  
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[PMID]:28045594
[Au] Autor:Nguyen KV; Naviaux RK; Nyhan WL
[Ad] Endereço:a Department of Medicine , Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego , San Diego , CA , USA.
[Ti] Título:Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
[So] Source:Nucleosides Nucleotides Nucleic Acids;36(2):151-157, 2017 Feb.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report three novel independent mutations in the coding region of the HPRT1 gene from genomic DNA of (a) a carrier sister of two male patients with LND: c.569G>C, p.G190A in exon 8; and (b) two LND affected male patients unrelated to her who had two mutations: c.648delC, p.Y216X, and c.653C>G, p.A218G in exon 9. Molecular analysis reveals the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency. It allows fast, accurate detection of carriers and genetic counseling.
[Mh] Termos MeSH primário: Substituição de Aminoácidos
Hipoxantina Fosforribosiltransferase/genética
Síndrome de Lesch-Nyhan/genética
[Mh] Termos MeSH secundário: Adulto
Alanina
Pré-Escolar
Éxons
Feminino
Glicina
Heterozigoto
Seres Humanos
Hipoxantina Fosforribosiltransferase/deficiência
Lactente
Masculino
Mutação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase); OF5P57N2ZX (Alanine); TE7660XO1C (Glycine)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170310
[Lr] Data última revisão:
170310
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170104
[St] Status:MEDLINE
[do] DOI:10.1080/15257770.2016.1231319


  6 / 1179 MEDLINE  
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[PMID]:27754763
[Au] Autor:Baba S; Saito T; Yamada Y; Takeshita E; Nomura N; Yamada K; Wakamatsu N; Sasaki M
[Ad] Endereço:a Department of Child Neurology , National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Tokyo , Japan.
[Ti] Título:Novel mutation in HPRT1 causing a splicing error with multiple variations.
[So] Source:Nucleosides Nucleotides Nucleic Acids;36(1):1-6, 2017 Jan 02.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are rare. We here report the case of a 9-month-old boy with LND. He showed developmental delay, athetosis, and dystonic posture from early infancy, but no self-injurious behaviors. Hyperuricemia was detected, and his HPRT enzyme activity in erythrocytes was completely deficient. A novel duplication mutation (c.372dupT, c.372_374 TTT > c.372_375 TTTT) was identified in exon 4 of the HPRT1, which causes aberrant splicing. This is the third case of a duplication mutation in the HPRT1 that causes splicing error.
[Mh] Termos MeSH primário: Hipoxantina Fosforribosiltransferase/genética
Síndrome de Lesch-Nyhan/genética
Mutação
Processamento de RNA
[Mh] Termos MeSH secundário: Eritrócitos/enzimologia
Seres Humanos
Hipoxantina Fosforribosiltransferase/metabolismo
Lactente
Síndrome de Lesch-Nyhan/etiologia
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170306
[Lr] Data última revisão:
170306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161019
[St] Status:MEDLINE
[do] DOI:10.1080/15257770.2016.1163381


  7 / 1179 MEDLINE  
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[PMID]:27906640
[Au] Autor:Torres RJ; Prior C; Garcia MG; Puig JG
[Ad] Endereço:a Department of Biochemistry , La Paz University Hospital, IdiPaz, Madrid, Spain and Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII , Spain.
[Ti] Título:A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.
[So] Source:Nucleosides Nucleotides Nucleic Acids;35(10-12):507-516, 2016 Dec.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lesch-Nyhan disease is caused by HGprt deficiency, however, the mechanism by which enzyme deficiency leads to the severe neurological manifestations is still unknown. We hypothesized that hypoxanthine excess leads, directly or indirectly, through its action in adenosine transport, to aberrations in neuronal development. We found that hypoxanthine diminishes adenosine transport and enhances stimulation of adenosine receptors. These effects cause an imbalance between adenosine, dopamine, and serotonin receptors in HGprt deficient cells, and cells differentiated with hypoxanthine showed an increase in dopamine, adenosine and serotonin receptors expression. Hypoxanthine deregulates early neuronal differentiation increasing WNT4 and EN1 gene expression.
[Mh] Termos MeSH primário: Hipoxantina/fisiologia
Síndrome de Lesch-Nyhan/metabolismo
[Mh] Termos MeSH secundário: Adenosina/metabolismo
Transporte Biológico
Diferenciação Celular
Proteínas de Homeodomínio/genética
Proteínas de Homeodomínio/metabolismo
Seres Humanos
Síndrome de Lesch-Nyhan/fisiopatologia
Síndrome de Lesch-Nyhan/psicologia
Neurônios/fisiologia
Proteína Wnt4/genética
Proteína Wnt4/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (EN1 protein, human); 0 (Homeodomain Proteins); 0 (WNT4 protein, human); 0 (Wnt4 Protein); 2TN51YD919 (Hypoxanthine); K72T3FS567 (Adenosine)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170317
[Lr] Data última revisão:
170317
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161202
[St] Status:MEDLINE


  8 / 1179 MEDLINE  
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[PMID]:27906614
[Au] Autor:Gisbert de la Cuadra L; Torres RJ; Beltrán LM; Sánchez A; Puig JG
[Ad] Endereço:a Department of Internal Medicine , Metabolic-Vascular Unit, La Paz University Hospital, IdiPaz , Madrid , Spain.
[Ti] Título:Development of new forms of self-injurious behavior following total dental extraction in Lesch-Nyhan disease.
[So] Source:Nucleosides Nucleotides Nucleic Acids;35(10-12):524-528, 2016 Dec.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We report two Lesch-Nyhan Disease (LND) patients who developed new forms of self-injurious behavior following total dental extraction. Patients 1 and 2 were submitted to total teeth extraction at the age of 13 and 8 years, respectively, due to continuous self-biting, not prevented by mouth guards. Severity of dystonia was markedly reduced and quality of life improved. After 12 and 17 months, respectively, patient 1 started rubbing one foot against other and scratching toenails with his hands, and patient 2 stuck his legs and feet against hard objects. These forms of self-injury behavior could be easily prevented with protective materials, according to the mothers.
[Mh] Termos MeSH primário: Síndrome de Lesch-Nyhan/diagnóstico
Comportamento Autodestrutivo/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Criança
Seres Humanos
Síndrome de Lesch-Nyhan/psicologia
Síndrome de Lesch-Nyhan/cirurgia
Masculino
Qualidade de Vida
Comportamento Autodestrutivo/prevenção & controle
Extração Dentária
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170317
[Lr] Data última revisão:
170317
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161202
[St] Status:MEDLINE


  9 / 1179 MEDLINE  
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[PMID]:27420966
[Au] Autor:Stur E; Reis RS; Agostini LP; Silva-Conforti AM; Louro ID
[Ad] Endereço:Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
[Ti] Título:HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.
[So] Source:Genet Mol Res;15(2), 2016 Jun 24.
[Is] ISSN:1676-5680
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo: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 affected males and several female obligate carriers. In 1989, Fujimori et al. reported on a patient diagnosed with LNS who had an HPRT variant thereafter codenamed HPRTYale. The same patient was studied by Wilson et al. in 1986, who found no detectable HPRT enzymatic activity, even though normal HPRT mRNA and protein levels were observed. Disease severity is closely related to residual enzymatic activity, which fits the phenotype presented for this previously reported case, as well as for the patients we report on herein. As it has been reported in only one patient, this mutation is still considered a variant of unknown significance. The HPRTYale mutation is a G>C transversion that leads to a different amino acid with different biochemical properties at position 71, potentially causing the major lack of function. To evaluate the impact of this variant, we used the PolyPhen-2 software, which classified it as possibly damaging. Furthermore, the frequency of this mutant allele is likely extremely rare, since it has only been reported on twice, and a population frequency is not yet available. In conclusion, we propose that the HPRTYale variant is pathogenic, and should be included on lab reports hereafter.
[Mh] Termos MeSH primário: Hipoxantina Fosforribosiltransferase/genética
Síndrome de Lesch-Nyhan/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Feminino
Heterozigoto
Seres Humanos
Síndrome de Lesch-Nyhan/diagnóstico
Masculino
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170209
[Lr] Data última revisão:
170209
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160716
[St] Status:MEDLINE
[do] DOI:10.4238/gmr.15028251


  10 / 1179 MEDLINE  
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[PMID]:27379977
[Au] Autor:Nguyen KV; Nyhan WL
[Ad] Endereço:a Department of Medicine , Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California , San Diego , California , USA.
[Ti] Título:Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
[So] Source:Nucleosides Nucleotides Nucleic Acids;35(8):426-33, 2016 Aug 02.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lesch-Nyhan syndrome (LNS) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel mutation which led to HGprt-related neurological dysfunction (HND) in two brothers from the same family with a missense mutation in exon 6 of the coding region of the HPRT1 gene: c.437T>C, p.L146S. Molecular diagnosis discloses the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
[Mh] Termos MeSH primário: Hipoxantina Fosforribosiltransferase/genética
Síndrome de Lesch-Nyhan/genética
[Mh] Termos MeSH secundário: Adulto
Sequência de Bases
Análise Mutacional de DNA
Estudos de Associação Genética
Seres Humanos
Síndrome de Lesch-Nyhan/diagnóstico
Masculino
Técnicas de Diagnóstico Molecular
Mutação de Sentido Incorreto
Mutação Puntual
Reação em Cadeia da Polimerase
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170306
[Lr] Data última revisão:
170306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160706
[St] Status:MEDLINE
[do] DOI:10.1080/15257770.2015.1098660



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