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    Delineation of novel compound heterozygous variants in LTBP2 associated with juvenile open angle glaucoma

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    Author
    Saeedi, O.
    Yousaf, S.
    Tsai, J.
    Date
    2018
    Journal
    Genes
    Publisher
    MDPI AG
    Type
    Article
    
    Metadata
    Show full item record
    See at
    https://dx.doi.org/10.3390/genes9110527
    Abstract
    Juvenile open angle glaucoma (JOAG), which is an uncommon form of primary open angle glaucoma, is a clinically and genetically heterogeneous disorder. We report on a family with a recessively inherited form of JOAG. The proband has a superior and an inferior never fiber layer thinning in both the eyes and the nasal visual field (VF) defects in the left eye, which are clinical findings consistent with glaucomatous optic neuropathy. Whole exome sequencing revealed two novel compound heterozygous variants [c.2966C>G, p.(Pro989Arg); c.5235T>G, p.(Asn1745Lys)] in latent transforming growth factor-beta-binding protein 2 (LTBP2) segregating with the phenotype. Both these variants are predicted to replace evolutionary conserved amino acids, have a pathogenic effect on the encode protein, and have very low frequencies in the control databases. Mutations in LTBP2 are known to cause the Weill-Marchesani syndrome and a Weill-Marchesani-like syndrome, which include glaucoma in their clinical presentation. However, to our knowledge, this is the first published case of a JOAG subject associated with recessively inherited variants of LTPB2 and, thus, expands the repertoire of the known genetic causes of JOAG and the phenotypic spectrum of LTBP2 alleles. Copyright 2018 by the authors. Licensee MDPI, Basel, Switzerland.
    Sponsors
    Funding: This research was funded by the National Institute on Deafness and Other Communication Disorders (NIDCD/NIH) research grants R01 DC016295 to Z.M.A. and K23 EY025014 to O.J.S.
    Keyword
    Compound heterozygous
    Glaucoma
    JOAG
    Juvenile-onset open angle glaucoma
    LTBP2
    Optic neuropathy
    Identifier to cite or link to this item
    https://www.scopus.com/inward/record.uri?eid=2-s2.0-85056591478&doi=10.3390%2fgenes9110527&partnerID=40&md5=31eaa77c481816c738c58f95b4e84863; http://hdl.handle.net/10713/9131
    ae974a485f413a2113503eed53cd6c53
    10.3390/genes9110527
    Scopus Count
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    UMB Open Access Articles 2018

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