Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-05-08

AUTHORS

Junichi Suzuki, Noriyuki Azuma, Sumito Dateki, Shun Soneda, Koji Muroya, Yukiyo Yamamoto, Reiko Saito, Shinichiro Sano, Toshiro Nagai, Hiroshi Wada, Akira Endo, Tatsuhiko Urakami, Tsutomu Ogata, Maki Fukami

ABSTRACT

Multiple mutations in SOX2 have been identified in patients with ocular anomalies and/or pituitary dysfunction. Here, we identified SOX2 abnormalities in nine patients. The molecular defects included one missense, one nonsense and four frameshift mutations, and three submicroscopic deletions involving SOX2. Three of the six mutations and all deletions were hitherto unreported. The breakpoints determined in one deletion were located within Alu repeats and accompanied by an overlap of 11 bp. Three of the six mutations encoded SOX2 proteins that lacked in vitro transactivation activity for the HESX1 promoter, whereas the remaining three generated proteins with ∼15–∼20% of transactivation activity. All cases manifested ocular anomalies of various severities, together with several complications including arachnoid cyst and hamartoma. There was no apparent correlation between the residual activity and clinical severity. The results indicate that molecular defects in SOX2 are highly variable and include Alu repeat-mediated genomic rearrangements. Our data provide further evidence for wide phenotypic variation of SOX2 abnormalities and the lack of genotype–phenotype correlation in patients carrying SOX2 lesions. More... »

PAGES

353-356

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2014.34

DOI

http://dx.doi.org/10.1038/jhg.2014.34

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037191570

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24804704


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