%0 Journal Article
%T A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.
%A Bozkurt B
%A Bağcı O
%A Üzüm S
%A Çora T
%J Ophthalmic Genet
%V 45
%N 4
%D 2024 Aug 1
%M 38557215
%F 1.274
%R 10.1080/13816810.2024.2331540
%X <B>UNASSIGNED: </B>Juvenile-onset open-angle glaucoma (JOAG) is a rare form of primary open-angle glaucoma (POAG) with an early age of onset before 40 years. Latent transforming growth factor-beta binding protein 2 (LTBP-2) is an extracellular matrix protein with a multi-domain structure and homology to fibrillins. LTBP2 gene variants have been associated with JOAG in a small number of patients. Herein, we report a novel missense variant in the LTBP2 gene in a Turkish family with JOAG.<BR><B>UNASSIGNED: </B>Blood samples were obtained from three siblings (a 20-year-old woman with JOAG, 26-year-old man with JOAG, and 15-year-old girl with posterior embryotoxon) for genetic analysis. Their father had moderate-severe POAG and the 24-year-old brother had JOAG. The mother and 32-year-old sister were healthy. Although the parents reported no consanguinity, they come from the same village.<BR><B>UNASSIGNED: </B>Clinical exome sequencing analysis of the two siblings with JOAG revealed a novel c.607C>T p.(R203C) (rs777450651) homozygous LTBP2 variant, while the variant was heterozygous in their 15-year-old sister. There were no mutations in the MYOC, CYP1B1, or FBN1 genes.<BR><B>UNASSIGNED: </B>We documented a novel missense mutation in the LTBP2 gene leading to a severe form of JOAG with refractory IOP and progressive optic nerve damage, which seems to show autosomal recessive inheritance.