Source:http://linkedlifedata.com/resource/pubmed/id/16710310
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
9
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pubmed:dateCreated |
2006-8-16
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pubmed:abstractText |
The mechanobullous disease Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations in the type VII collagen gene (COL7A1) on chromosome 3p21.31. Typically, there are frameshift, splice site, or nonsense mutations on both alleles. In this report, we describe a patient with HS-RDEB, who was homozygous for a new frameshift mutation, 345insG, in exon 3 of COL7A1. However, sequencing of parental DNA showed that although the patient's mother was a heterozygous carrier of this mutation, the father's DNA contained only wild-type sequence. Microsatellite marker analysis confirmed paternity and genotyping of 28 microsatellites spanning chromosome 3 revealed that the affected child was homozygous for every marker tested with all alleles originating from a single maternal chromosome 3. Thus, the HS-RDEB phenotype in this patient is due to complete maternal isodisomy of chromosome 3 and reduction to homozygosity of the mutant COL7A1 gene locus. To our knowledge, there are no published reports of uniparental disomy (UPD) in HS-RDEB; moreover, this case represents only the third example of UPD of chromosome 3 to be reported. The severity of the HS-RDEB in this case was similar to other affected individuals and no additional phenotypic abnormalities were observed, suggesting an absence of maternally imprinted genes on chromosome 3.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0022-202X
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pubmed:author |
pubmed-author:AthertonDavid JDJ,
pubmed-author:Dopping-HepenstalPatricia J CPJ,
pubmed-author:FassihiHivaH,
pubmed-author:FosterLesleyL,
pubmed-author:JobLL,
pubmed-author:JonesCatherine ACA,
pubmed-author:McGrathJohn AJA,
pubmed-author:MellerioJemima EJE,
pubmed-author:OzoemenaLinda CLC,
pubmed-author:WessagowitVesaratV
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pubmed:issnType |
Print
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pubmed:volume |
126
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2039-43
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16710310-Adult,
pubmed-meshheading:16710310-Base Sequence,
pubmed-meshheading:16710310-Chromosomes, Human, Pair 3,
pubmed-meshheading:16710310-Collagen Type VII,
pubmed-meshheading:16710310-Epidermolysis Bullosa Dystrophica,
pubmed-meshheading:16710310-Exons,
pubmed-meshheading:16710310-Female,
pubmed-meshheading:16710310-Frameshift Mutation,
pubmed-meshheading:16710310-Genes, Recessive,
pubmed-meshheading:16710310-Homozygote,
pubmed-meshheading:16710310-Humans,
pubmed-meshheading:16710310-Infant, Newborn,
pubmed-meshheading:16710310-Male,
pubmed-meshheading:16710310-Microsatellite Repeats,
pubmed-meshheading:16710310-Molecular Sequence Data,
pubmed-meshheading:16710310-Phenotype,
pubmed-meshheading:16710310-Uniparental Disomy
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pubmed:year |
2006
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pubmed:articleTitle |
Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
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pubmed:affiliation |
Genetic Skin Disease Group, St John's Institute of Dermatology, King's College School of Medicine at Guy's, King's College and St Thomas' Hospitals, London, UK.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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