Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.
Eur J Hum Genet
Authors | |
Abstract | Antibody class-switch recombination and somatic hypermutation critically depend on the function of activation-induced cytidine deaminase (AID). Rare variants in its gene AICDA have been reported to cause autosomal recessive AID deficiency (autosomal recessive hyper-IgM syndrome type 2 (HIGM2)). Exome sequencing of a multicase Finnish family with an HIGM2 phenotype identified a rare, homozygous, variant (c.416T>C, p.(Met139Thr)) in the AICDA gene, found to be significantly enriched in the Finnish population compared with other populations of European origin (38.56-fold, P |
Year of Publication | 2016
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Journal | Eur J Hum Genet
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Volume | 24
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Issue | 10
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Pages | 1473-8
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Date Published | 2016 Oct
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ISSN | 1476-5438
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URL | |
DOI | 10.1038/ejhg.2016.37
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PubMed ID | 27142677
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PubMed Central ID | PMC5027683
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