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Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association.

Publication ,  Journal Article
Wallace, DJ; Chau, FY; Santiago-Turla, C; Hauser, M; Challa, P; Lee, PP; Herndon, LW; Allingham, RR
Published in: Mol Vis
2014

PURPOSE: Osteogenesis imperfecta (OI) is a group of inherited disorders characterized by bone fragility. Ocular findings include blue sclera, low ocular rigidity, and thin corneal thickness. However, there are no documented cases linking OI and primary open angle glaucoma (POAG). In this report, we describe three individuals, one isolated case and two from a multiplex family, with OI type I and POAG. METHODS: Available family members with OI and POAG had a complete eye examination, including visual acuity, intraocular pressure (IOP), pachymetry, slit-lamp exam, dilated fundus exam, and visual fields. DNA from blood samples was sequenced and screened for mutations in COL1A1/2 and myocilin (MYOC). RESULTS: All subjects had OI type I. Findings of POAG included elevated IOP, normal gonioscopy, and glaucomatous optic disc cupping and visual field loss. POAG cosegregated with OI in the multiplex family. The multiplex family had a single nucleotide insertion (c.540_541insC) in COL1A1 resulting in a frameshift mutation and a premature termination codon. The sporadic case had a COL1A1 splice acceptor site mutation (c.2452-2A>T or IVS36-2A>T) predicted to result in a premature termination codon due to intron inclusion or a cryptic splice site. None of the glaucoma cases had mutations or sequence changes in MYOC. CONCLUSIONS: We identified two novel mutations in COL1A1 in individuals with OI type I and POAG. Thus, some mutations in COL1A1 may be causative for OI and POAG. Alternatively, susceptibility genes may interact with mutations in COL1A1 to cause POAG.

Duke Scholars

Published In

Mol Vis

EISSN

1090-0535

Publication Date

2014

Volume

20

Start / End Page

1174 / 1181

Location

United States

Related Subject Headings

  • Visual Fields
  • Sequence Deletion
  • RNA Splice Sites
  • Osteogenesis Imperfecta
  • Optic Nerve
  • Ophthalmology & Optometry
  • Mutagenesis, Insertional
  • Middle Aged
  • Humans
  • Glycoproteins
 

Citation

APA
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ICMJE
MLA
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Wallace, D. J., Chau, F. Y., Santiago-Turla, C., Hauser, M., Challa, P., Lee, P. P., … Allingham, R. R. (2014). Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. Mol Vis, 20, 1174–1181.
Wallace, Dana J., Felix Y. Chau, Cecilia Santiago-Turla, Michael Hauser, Pratap Challa, Paul P. Lee, Leon W. Herndon, and R Rand Allingham. “Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association.Mol Vis 20 (2014): 1174–81.
Wallace DJ, Chau FY, Santiago-Turla C, Hauser M, Challa P, Lee PP, et al. Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. Mol Vis. 2014;20:1174–81.
Wallace DJ, Chau FY, Santiago-Turla C, Hauser M, Challa P, Lee PP, Herndon LW, Allingham RR. Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. Mol Vis. 2014;20:1174–1181.

Published In

Mol Vis

EISSN

1090-0535

Publication Date

2014

Volume

20

Start / End Page

1174 / 1181

Location

United States

Related Subject Headings

  • Visual Fields
  • Sequence Deletion
  • RNA Splice Sites
  • Osteogenesis Imperfecta
  • Optic Nerve
  • Ophthalmology & Optometry
  • Mutagenesis, Insertional
  • Middle Aged
  • Humans
  • Glycoproteins