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Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1Trebušak Podkrajšek, Katarina ...Objective: Autoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) genemutations facilitates timely and precise ... diagnosis. Design: AIRE mutation detection was performed in a cohort of 11 patients. Two did not meet clinical APS-1 criteria and several started with atypical presentation. Methods: Sequencing and TaqMan genotyping were used to identify AIRE mutations. Complete AIRE deletion was confirmed and framed by real-time PCR, long-range amplification and analysis of the microsatellite markers. Results: Seven different mutations were detected, three were novel: c.892G>A in exon 8, silent mutation c.462A>T in exon 3 most likely affecting splicing, and a complete deletion of a single AIRE allele ((?_68)_(1567-14_?)del). Novel (chronic otitis) and rare (systemic juvenile rheumatoid arthritis, autoimmune bronchiolitis, epilepsy) clinical presentations were observed. Conclusion: AIRE mutation detection was valuable in the diagnostics of APS-1 in patients with atypical presentation. Chronic otitis media possibly broadened the cluster of APS-1 manifestations.Source: European journal of endocrinology. - ISSN 0804-4643 (Letn. 159, št. 5, 2008, str. 633-639)Type of material - article, component partPublish date - 2008Language - englishCOBISS.SI-ID - 25227481
Author
Trebušak Podkrajšek, Katarina |
Milenković, Tatjana |
Odink, Roelof J. |
Claasen van den Grinten, Hedi L |
Bratanič, Nevenka |
Hovnik, Tinka |
Battelino, Tadej
Topics
Gene Deletion |
Genetic Screening |
Adult |
Child |
Cohort Studies |
Dna Mutational Analysis |
Heterozygote |
Microsatellite Repeats |
Phenotype |
Point Mutation |
Polyendocrinopathies, Autoimmune |
Diagnosis |
Genetics |
Transcription Factors |
Genetics |
Genska delecija |
Genetsko presejanje |
Heterozigota |
Transkripcija, faktorji |
Otrok |
DNA mutacijska analiza |
Odrasli |
Fenotip |
Poliendokrinopatije avtoimunske |
Kohortne študije |
Mikrosatelitne ponovitve |
Točkovna mutacija
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Trebušak Podkrajšek, Katarina | 20253 |
Milenković, Tatjana | ![]() |
Odink, Roelof J. | ![]() |
Claasen van den Grinten, Hedi L | ![]() |
Bratanič, Nevenka | 01314 |
Hovnik, Tinka | 28512 |
Battelino, Tadej | 13023 |
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