Source:http://linkedlifedata.com/resource/pubmed/id/15270412
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
2004-7-23
|
| pubmed:abstractText |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder defined by the presence of two of three conditions, namely, Addison's disease, hypoparathyroidism, and mucocutaneous candidiasis. APECED is caused by alteration in a single gene, named the autoimmune regulator (AIRE) gene. We report AIRE gene mutations in a Japanese female with APECED. The patient is a 22-year-old Japanese female who was diagnosed with Addison's disease, hypoparathyroidism, and mucocutaneous candidiasis at age 8 years. Sequence analysis of the AIRE gene revealed novel compound heterozygous mutations. One was 1471 delCinsTT in exon 11 (GenBank accession no. AB006682), which leads to a frameshift and premature truncation of a 502 amino acid protein. The other was a G-->A transition at IVS11+1. Her mother was heterozygous for 1471 delCinsTT and was normal homozygous for IVS11+1. We found novel compound heterozygous mutations in the AIRE gene of a Japanese female with APECED.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0334-018X
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
17
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
917-21
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| pubmed:meshHeading |
pubmed-meshheading:15270412-Addison Disease,
pubmed-meshheading:15270412-Adult,
pubmed-meshheading:15270412-Asian Continental Ancestry Group,
pubmed-meshheading:15270412-Base Sequence,
pubmed-meshheading:15270412-Candidiasis, Chronic Mucocutaneous,
pubmed-meshheading:15270412-Cytosine,
pubmed-meshheading:15270412-Ectodermal Dysplasia,
pubmed-meshheading:15270412-Exons,
pubmed-meshheading:15270412-Female,
pubmed-meshheading:15270412-Frameshift Mutation,
pubmed-meshheading:15270412-Gene Deletion,
pubmed-meshheading:15270412-Heterozygote,
pubmed-meshheading:15270412-Humans,
pubmed-meshheading:15270412-Hypoparathyroidism,
pubmed-meshheading:15270412-Mutagenesis, Insertional,
pubmed-meshheading:15270412-Mutation,
pubmed-meshheading:15270412-Polyendocrinopathies, Autoimmune,
pubmed-meshheading:15270412-Syndrome,
pubmed-meshheading:15270412-Thymidine,
pubmed-meshheading:15270412-Transcription Factors
|
| pubmed:year |
2004
|
| pubmed:articleTitle |
Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.
|
| pubmed:affiliation |
Division of Endocrinology and Metabolism, Department of Medicine, National Center for Child Health and Development, Tokyo, Japan.
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| pubmed:publicationType |
Journal Article,
Case Reports
|