Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■青少年型开角型青光眼（JOAG）是一种罕见的原发性开角型青光眼（POAG），发病年龄在40岁之前。潜在转化生长因子-β结合蛋白2（LTBP-2）是一种具有多结构域结构且与原纤维蛋白同源的细胞外基质蛋白。LTBP2基因变异在少数患者中与JOAG相关。在这里，我们报道了一个土耳其JAAG家族LTBP2基因的新错义变异。
■血液样本来自三个兄弟姐妹（一名20岁的妇女患有JOAG，26岁的男子与JOAG,和15岁的后胚毒素女孩）进行遗传分析。他们的父亲患有中度重度POAG，而24岁的兄弟患有JOAG。母亲和32岁的妹妹都很健康。尽管父母没有血缘关系，他们来自同一个村庄。
■使用JOAG对两个兄弟姐妹进行的临床外显子组测序分析揭示了一种新颖的c.607C>Tp。（R203C）（rs777450651）纯合LTBP2变体，而变异体在他们15岁的妹妹中是杂合的。MYOC没有突变,CYP1B1或FBN1基因。
■我们记录了LTBP2基因中的一种新的错义突变，导致严重的JOAG，伴有难治性IOP和进行性视神经损伤，这似乎表明常染色体隐性遗传。
■血液样本来自三个兄弟姐妹（一名20岁的妇女患有JOAG，26岁的男子与JOAG,和15岁的后胚毒素女孩）进行遗传分析。他们的父亲患有中度重度POAG，而24岁的兄弟患有JOAG。母亲和32岁的妹妹都很健康。尽管父母没有血缘关系，他们来自同一个村庄。
■使用JOAG对两个兄弟姐妹进行的临床外显子组测序分析揭示了一种新颖的c.607C>Tp。（R203C）（rs777450651）纯合LTBP2变体，而变异体在他们15岁的妹妹中是杂合的。MYOC没有突变,CYP1B1或FBN1基因。
■我们记录了LTBP2基因中的一种新的错义突变，导致严重的JOAG，伴有难治性IOP和进行性视神经损伤，这似乎表明常染色体隐性遗传。
