Source:http://linkedlifedata.com/resource/pubmed/id/11438997
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2001-7-4
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| pubmed:abstractText |
The enzyme 6-Pyruvoyl-tetrahydropterin synthase (PTS) deficiency is the major cause of BH(4)-deficient HPA. The frequency of BH(4)-deficient HPA was estimated to be around 30% among Chinese HPA population in Taiwan, which is much higher than that in Caucasian population (1.5-2% of HPA). Approximately 86% of Chinese BH(4)-deficient HPA was found to be caused by PTS-deficiency. Seven mutations - namely R25G, N52S, V56M, V70D, P87S, D96N, and T106M - had been identified in Chinese PTS-deficient patients previously. In this study, five additional mutations in the PTS gene, namely 200C>T (T67M), 226C>T (L76F), IVS3+1G>A (K54X), 116-119delTGTT (K38X) and 169-171delGTG (V57del), were identified by PCR and DNA sequencing in Chinese PTS-deficient patients. The 116-119delTGTT introduces a frameshift stop after lysine of codon 38 (K38X). The G-to-A transition at the consensus sequence of splicing donor site of exon 3 (IVS3+1G>A) resulted in exon 3 skipping of the PTS transcript and caused a frameshift stop after lysine of codon 54 (K54X). The T67M and V57del mutations have been found in Caucasian PTS deficient patients, while the L76F, IVS3+1G>A, and K38X mutations are novel. None of 100 normal alleles screened was found to have the L76F substitution, which indicated that the L76F substitution is a mutation causing PTS deficiency. Hum Mutat 18:83, 2001.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/5,6,7,8-tetrahydrobiopterin,
http://linkedlifedata.com/resource/pubmed/chemical/6-pyruvoyltetrahydropterin synthase,
http://linkedlifedata.com/resource/pubmed/chemical/Biopterin,
http://linkedlifedata.com/resource/pubmed/chemical/Phosphorus-Oxygen Lyases,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/RNA Splice Sites
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| pubmed:status |
MEDLINE
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| pubmed:issn |
1098-1004
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 2001 Wiley-Liss, Inc.
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| pubmed:issnType |
Electronic
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| pubmed:volume |
18
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
83
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:11438997-Alleles,
pubmed-meshheading:11438997-Alternative Splicing,
pubmed-meshheading:11438997-Asian Continental Ancestry Group,
pubmed-meshheading:11438997-Biopterin,
pubmed-meshheading:11438997-China,
pubmed-meshheading:11438997-DNA Mutational Analysis,
pubmed-meshheading:11438997-European Continental Ancestry Group,
pubmed-meshheading:11438997-Exons,
pubmed-meshheading:11438997-Female,
pubmed-meshheading:11438997-Frameshift Mutation,
pubmed-meshheading:11438997-Genotype,
pubmed-meshheading:11438997-Humans,
pubmed-meshheading:11438997-Male,
pubmed-meshheading:11438997-Mutation,
pubmed-meshheading:11438997-Mutation, Missense,
pubmed-meshheading:11438997-Pedigree,
pubmed-meshheading:11438997-Phenotype,
pubmed-meshheading:11438997-Phenylketonurias,
pubmed-meshheading:11438997-Phosphorus-Oxygen Lyases,
pubmed-meshheading:11438997-RNA, Messenger,
pubmed-meshheading:11438997-RNA Splice Sites,
pubmed-meshheading:11438997-Sequence Deletion,
pubmed-meshheading:11438997-Taiwan
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| pubmed:year |
2001
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| pubmed:articleTitle |
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
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| pubmed:affiliation |
Institute of Genetics, National Yang-Ming University, Taipei, Taiwan.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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