Journal
VISION RESEARCH
Volume 100, Issue -, Pages 88-92Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.visres.2014.04.007
Keywords
Agenesis; Corpus callosum; PPCD3; ZEB1; ZEB2; Corneal dystrophy
Categories
Funding
- National Eye Institute [1R01 EY022082, P30 EY000331]
- Research to Prevent Blindness
- Gerald Oppenheimer Family Foundation Center for the Prevention of Eye Disease
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Posterior polymorphous corneal dystrophy (PPCD) is a dominantly inherited disorder of the corneal endothelium that has been associated with mutations in the zinc-finger E-box binding homeobox 1 gene (ZEB1) gene in approximately one-third of affected families. While the corneal dystrophies have traditionally been considered isolated disorders of the corneal endothelium, we have recently identified two cases of maldevelopment of the corpus callosum in unrelated individuals with PPCD. The proband of the first family was diagnosed shortly after birth with agenesis of the corpus callosum and several other developmental abnormalities. Karyotype, FISH and whole genome copy number variant analyses were normal. She was subsequently diagnosed with PPCD, prompting screening of the ZEB1 gene, which identified a novel deletion (c.449delG; p.(Gly150Alafs*36)) present in the heterozygous state that was not identified in either unaffected parent. The proband of the second family was diagnosed several months after birth with thinning of the corpus callosum and PPCD. Whole genome copy number variant analysis revealed a 1.79 Mb duplication of 17q12 in the proband and her father and brother, neither of whom had PPCD. ZEB1 sequencing identified a novel deletion (c.1913-1914delCA; p.(Ser638Cysfs*5)) present in the heterozygous state, which was also identified in the proband's affected mother. Thus, we report the first two cases of the association of PPCD with a developmental abnormality of the brain, in this case maldevelopment of the corpus callosum. (C) 2014 Elsevier B.V. All rights reserved.
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