{"_links":{"self":{"href":"/api/v2/datasets/doi%3A10.5061%2Fdryad.k7455"},"stash:versions":{"href":"/api/v2/datasets/doi%3A10.5061%2Fdryad.k7455/versions"},"stash:version":{"href":"/api/v2/versions/584"},"stash:download":{"href":"/api/v2/datasets/doi%3A10.5061%2Fdryad.k7455/download"},"curies":[{"name":"stash","href":"https://github.com/datadryad/dryad-app/blob/main/documentation/apis/link_relations.md#{rel}","templated":"true"}]},"identifier":"doi:10.5061/dryad.k7455","id":584,"storageSize":442116648,"relatedPublicationISSN":"1932-6203","title":"Data from: Identification of novel variants in LTBP2 and PXDN using whole-exome sequencing in developmental and congenital glaucoma","authors":[{"firstName":"Shazia","lastName":"Micheal","affiliation":"Radboud University Medical Center","affiliationROR":"https://ror.org/05wg1m734","affiliations":[{"name":"Radboud University Medical Center","ror_id":"https://ror.org/05wg1m734"}]},{"firstName":"Sorath Noorani","lastName":"Siddiqui","affiliation":"Department of Pediatric Ophthalmology, Al-Shifa Eye Trust Hospital Jhelum Road, Rawalpindi, Pakistan","affiliations":[{"name":"Department of Pediatric Ophthalmology, Al-Shifa Eye Trust Hospital Jhelum Road, Rawalpindi, Pakistan"}]},{"firstName":"Saemah Nuzhat","lastName":"Zafar","affiliation":"Department of Pediatric Ophthalmology, Al-Shifa Eye Trust Hospital Jhelum Road, Rawalpindi, Pakistan","affiliations":[{"name":"Department of Pediatric Ophthalmology, Al-Shifa Eye Trust Hospital Jhelum Road, Rawalpindi, Pakistan"}]},{"firstName":"Aftab","lastName":"Iqbal","affiliation":"University of Westminster","affiliationROR":"https://ror.org/04ycpbx82","affiliations":[{"name":"University of Westminster","ror_id":"https://ror.org/04ycpbx82"}]},{"firstName":"Muhammad Imran","lastName":"Khan","affiliation":"Radboud University Medical Center","affiliationROR":"https://ror.org/05wg1m734","affiliations":[{"name":"Radboud University Medical Center","ror_id":"https://ror.org/05wg1m734"}]},{"firstName":"Anneke I.","lastName":"den Hollander","affiliation":"Radboud University Medical Center","affiliationROR":"https://ror.org/05wg1m734","affiliations":[{"name":"Radboud University Medical Center","ror_id":"https://ror.org/05wg1m734"}]}],"abstract":"Background\r\nPrimary congenital glaucoma (PCG) is the most common form of glaucoma in children. PCG occurs due to the developmental defects in the trabecular meshwork and anterior chamber of the eye. The purpose of this study is to identify the causative genetic variants in three families with developmental and primary congenital glaucoma (PCG) with a recessive inheritance pattern.\r\nMethods\r\nDNA samples were obtained from consanguineous families of Pakistani ancestry. The CYP1B1 gene was sequenced in the affected probands by conventional Sanger DNA sequencing. Whole exome sequencing (WES) was performed in DNA samples of four individuals belonging to three different CYP1B1-negative families. Variants identified by WES were validated by Sanger sequencing.\r\nResults\r\nWES identified potentially causative novel mutations in the latent transforming growth factor beta binding protein 2 (LTBP2) gene in two PCG families. In the first family a novel missense mutation (c.4934G\u003eA; p.Arg1645Glu) co-segregates with the disease phenotype, and in the second family a novel frameshift mutation (c.4031_4032insA; p.Asp1345Glyfs*6) was identified. In a third family with developmental glaucoma a novel mutation (c.3496G\u003eA; p.Gly1166Arg) was identified in the PXDN gene, which segregates with the disease.\r\nConclusions\r\nWe identified three novel mutations in glaucoma families using WES; two in the LTBP2 gene and one in the PXDN gene. The results will not only enhance our current understanding of the genetic basis of glaucoma, but may also contribute to a better understanding of the diverse phenotypic consequences caused by mutations in these genes.","keywords":["Nonsense mutation","Eye diseases","Mutation detection","Cornea","Glaucoma","lens (anatomy)","Eyes","Frameshift mutation"],"usageNotes":"\u003cdiv class=\"o-metadata__file-usage-entry\"\u003e\u003ch4 class=\"o-heading__level3-file-title\"\u003eDNA12-14956.hcdiffs\u003c/h4\u003e\u003cdiv class=\"o-metadata__file-description\"\u003eExome sequencing data\u003c/div\u003e\u003cdiv class=\"o-metadata__file-name\"\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"o-metadata__file-usage-entry\"\u003e\u003ch4 class=\"o-heading__level3-file-title\"\u003eDNA13-07606.hcdiffs\u003c/h4\u003e\u003cdiv class=\"o-metadata__file-description\"\u003eExome sequencing data\u003c/div\u003e\u003cdiv class=\"o-metadata__file-name\"\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"o-metadata__file-usage-entry\"\u003e\u003ch4 class=\"o-heading__level3-file-title\"\u003eDNA13-07610.hcdiffs\u003c/h4\u003e\u003cdiv class=\"o-metadata__file-name\"\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"o-metadata__file-usage-entry\"\u003e\u003ch4 class=\"o-heading__level3-file-title\"\u003eDNA13-07602.hcdiffs\u003c/h4\u003e\u003cdiv class=\"o-metadata__file-name\"\u003e\u003c/div\u003e\u003c/div\u003e","relatedWorks":[{"relationship":"primary_article","identifierType":"DOI","identifier":"https://doi.org/10.1371/journal.pone.0159259"}],"versionNumber":1,"versionStatus":"submitted","curationStatus":"Published","versionChanges":"none","publicationDate":"2016-12-16","lastModificationDate":"2020-06-24","visibility":"public","sharingLink":"http://datadryad.org/dataset/doi:10.5061/dryad.k7455","changedFields":["none"],"license":"https://spdx.org/licenses/CC0-1.0.html","metrics":{"views":448,"downloads":119,"citations":0}}