PubMed:17911039 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PubMed/sourceid/17911039","sourcedb":"PubMed","sourceid":"17911039","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/17911039","text":"An Alu-mediated rearrangement causing a 3.2kb deletion and a novel two base pair deletion in AAAS gene as the cause of triple A syndrome.\nTriple A syndrome is an autosomal recessive disorder resulting from deleterious mutations in the AAAS gene located on chromosome 12q13. Typical clinical presentation of this syndrome includes adrenal insufficiency, achalasia, and alacrima. A 10-year-old female was diagnosed with Triple A syndrome at the age of 1 year. Initial analysis of the AAAS gene revealed apparently homozygosity for a novel 2bp deletion in exon 1. The father of the patient was heterozygous for this mutation but the mother and the maternal grandparents were apparently homozygous for the wild-type. Further studies demonstrated that the patient carried an intragenic 3.2kb deletion within both 5' and 3' breakpoints located within Alu-repeats. The deletion includes 5'-flanking region, exon 1, intron 1, exon 2, and part of intron 2 sequences of the AAAS gene. This Alu-mediated deletion was inherited from her mother and maternal grandmother. This is the first report that Alu-mediated rearrangement in conjunction with a novel two-bp deletion of the AAAS gene is a cause of Triple A syndrome. The results of our study lead to the hypothesis that an Alu-mediated mechanism may be responsible for large alterations in the AAAS gene. We also stress the importance of studying the family in genetic recessive diseases, such as Triple A syndrome, to avoid incorrect diagnosis and to provide accurate genetic counseling.","tracks":[{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":93,"end":97},"obj":"gene:8086"},{"id":"T1","span":{"begin":119,"end":136},"obj":"disease:C0271742"},{"id":"T2","span":{"begin":235,"end":239},"obj":"gene:8086"},{"id":"T3","span":{"begin":138,"end":155},"obj":"disease:C0271742"},{"id":"T4","span":{"begin":1166,"end":1170},"obj":"gene:8086"},{"id":"T5","span":{"begin":1190,"end":1207},"obj":"disease:C0271742"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"}]},{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":162,"end":181},"obj":"HP_0000007"},{"id":"T2","span":{"begin":330,"end":351},"obj":"HP_0000846"},{"id":"T3","span":{"begin":353,"end":362},"obj":"HP_0002571"},{"id":"T4","span":{"begin":368,"end":376},"obj":"HP_0000522"},{"id":"T1","span":{"begin":162,"end":181},"obj":"HP_0000007"},{"id":"T2","span":{"begin":330,"end":351},"obj":"HP_0000846"},{"id":"T3","span":{"begin":353,"end":362},"obj":"HP_0002571"},{"id":"T4","span":{"begin":368,"end":376},"obj":"HP_0000522"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"},{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17911039-0#93#97#gene8086","span":{"begin":93,"end":97},"obj":"gene8086"},{"id":"17911039-0#119#136#diseaseC0271742","span":{"begin":119,"end":136},"obj":"diseaseC0271742"},{"id":"17911039-1#97#101#gene8086","span":{"begin":235,"end":239},"obj":"gene8086"},{"id":"17911039-1#24#52#diseaseC3899988","span":{"begin":162,"end":190},"obj":"diseaseC3899988"}],"relations":[{"id":"93#97#gene8086119#136#diseaseC0271742","pred":"associated_with","subj":"17911039-0#93#97#gene8086","obj":"17911039-0#119#136#diseaseC0271742"},{"id":"97#101#gene808624#52#diseaseC3899988","pred":"associated_with","subj":"17911039-1#97#101#gene8086","obj":"17911039-1#24#52#diseaseC3899988"}],"attributes":[{"subj":"17911039-0#93#97#gene8086","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"17911039-0#119#136#diseaseC0271742","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"17911039-1#97#101#gene8086","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"17911039-1#24#52#diseaseC3899988","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET","color":"#93eccf","default":true},{"id":"PubmedHPO","color":"#ecb593"},{"id":"DisGeNET5_gene_disease","color":"#9b93ec"}]}]}}