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Background  Primary 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.    Methods  DNA 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.    Results  WES 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>A; 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>A; p.Gly1166Arg) was identified in the  PXDN  gene, which segregates with the disease.    Conclusions  We 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.

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma