Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-03

AUTHORS

Alex Choi, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Wasima Mayer, Tanya Bardakjian, Gary M Shaw, Pui-Yan Kwok, Adele Schneider, Anne Slavotinek

ABSTRACT

We used exome sequencing to study a non-consanguineous family with two children who had anterior segment dysgenesis, sclerocornea, microphthalmia, hypotonia and developmental delays. Sanger sequencing verified two Peroxidasin (PXDN) mutations in both sibs--a maternally inherited, nonsense mutation, c.1021C>T predicting p.(Arg341*), and a paternally inherited, 23-basepair deletion causing a frameshift and premature protein truncation, c.2375_2397del23, predicting p.(Leu792Hisfs*67). We re-examined exome data from 20 other patients with structural eye defects and identified two additional PXDN mutations in a sporadic male with bilateral microphthalmia, cataracts and anterior segment dysgenesis--a maternally inherited, frameshift mutation, c.1192delT, predicting p.(Tyr398Thrfs*40) and a paternally inherited, missense substitution that was predicted to be deleterious, c.947 A>C, predicting p.(Gln316Pro). Mutations in PXDN were previously reported in three families with congenital cataracts, microcornea, sclerocornea and developmental glaucoma. The gene is expressed in corneal epithelium and is secreted into the extracellular matrix. Defective peroxidasin has been shown to impair sulfilimine bond formation in collagen IV, a constituent of the basement membrane, implying that the eye defects result because of loss of basement membrane integrity in the developing eye. Our finding of a broader phenotype than previously appreciated for PXDN mutations is typical for exome-sequencing studies, which have proven to be highly effective for mutation detection in patients with atypical presentations. We conclude that PXDN sequencing should be considered in microphthalmia with anterior segment dysgenesis. More... »

PAGES

337-341

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2014.119

DOI

http://dx.doi.org/10.1038/ejhg.2014.119

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1050731618

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24939590


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304 https://www.grid.ac/institutes/grid.266102.1 schema:alternateName University of California, San Francisco
305 schema:name Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
306 Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA.
307 rdf:type schema:Organization
 




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