| The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). | |
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MedLine Citation:
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PMID: 15605415 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Generalized arterial calcification of infancy (GACI), is characterized by calcification of the internal elastic lamina of large and medium-sized arteries and stenosis due to myointimal proliferation. Although survival to adulthood has been reported, most patients die within the first six months of life. Recently, we found mutations of ENPP1 coding for ecto-nucleotide pyrophosphatase/phosphodiesterase 1 to be associated with GACI in 8 of 11 families. In this study, we analyzed ENPP1 in affected individuals of another 12 unrelated families. We identified 11 novel homozygous or compound heterozygous mutations in 10 of the 12 new families. The mutations (1 nonsense, 7 missense, 1 single amino acid deletion, and 2 frame shift mutations) were scattered over the whole coding region with a slightly more condensed distribution within the catalytic and nuclease-like domain as compared to the first survey. In this study, three mutations were found repeatedly in apparently unrelated patients, 7 x c.913C>A (p.Pro305Thr) and c.2662C [corrected]>T (p.Arg888Trp) as well as c.2320C>T (p.Arg774Cys) each twice. However, haplotype analysis suggested a founder effect of British extraction for mutation c.913C>A (p.Pro305Thr). The fact that the two other mutations c.2662C [corrected]>T (p.Arg888Trp) and c.2320C>T (p.Arg774Cys) occurred twice within a single allele also suggests a single founder. This study confirms the role of ENPP1 mutations as the main cause of GACI and adds considerably to the mutational spectrum of ENPP1. |
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Authors:
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Nico Ruf; Birgit Uhlenberg; Robert Terkeltaub; Peter Nürnberg; Frank Rutsch |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Human mutation Volume: 25 ISSN: 1098-1004 ISO Abbreviation: Hum. Mutat. Publication Date: 2005 Jan |
Date Detail:
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Created Date: 2004-12-22 Completed Date: 2006-02-27 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9215429 Medline TA: Hum Mutat Country: United States |
Other Details:
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Languages: eng Pagination: 98 Citation Subset: IM |
Copyright Information:
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(c) 2004 Wiley-Liss, Inc. |
Affiliation:
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Gene Mapping Center, Max-Delbrück-Center for Molecular Medicine, Berlin-Buch, Germany. |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/208000 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Arteries* Calcinosis / genetics* Child DNA Mutational Analysis Humans Infant Infant, Newborn Mutation Phosphoric Diester Hydrolases / genetics* Pyrophosphatases / genetics* Vascular Diseases / genetics* |
| Chemical | |
Reg. No./Substance:
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EC 3.1.4.-/Phosphoric Diester Hydrolases; EC 3.1.4.1/ectonucleotide pyrophosphatase phosphodiesterase 1; EC 3.6.1.-/Pyrophosphatases |
| Comments/Corrections | |
Erratum In:
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Hum Mutat. 2005 Nov;26(5):495-6 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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