We describe the phenotype of juvenile onset open-angle glaucoma in a patient with a rare variant in EFEMP1 gene, who was also detected to have Stickler syndrome(STL).
Whole exome sequencing (WES) was undertaken in 40 unrelated families where the proband had juvenile onset open-angle glaucoma (JOAG).
Out of these, eight were autosomal dominant, while the rest did not have any other affected first-degree relative. Out of the 8 autosomal dominant JOAG families, MYOC mutations were detected in 3(37.5%) and LTBP2 in 1(12.5%). One family (12.5%) had a rare EFEMP1 sequence variant in both affected father and daughter. The daughter also had high myopia and a pathogenic COL11A1 sequence variant that led to a coincidental diagnosis of STL in her.
This is a rare association of EFEMP1 and COL11A1 sequence variants in a JOAG patient with STL. The study also reiterates the association of JOAG with EFEMP1, which should be looked for, especially in families with autosomal dominant JOAG.
■我们描述了在EFEMP1基因中具有罕见变异的患者中幼年性开角型青光眼的表型,谁也被检测出患有Stickler综合征(STL)。
■在40个不相关的家庭中进行了全外显子组测序(WES),其中先证者患有幼年性开角型青光眼(JOAG)。
■其中,八个是常染色体显性,而其余的没有任何其他受影响的一级亲属。在8个常染色体显性JAAG家族中,MYOC突变检测3例(37.5%),LTBP2检测1例(12.5%)。一个家庭(12.5%)在受影响的父亲和女儿中均具有罕见的EFEMP1序列变异。女儿还患有高度近视和致病性COL11A1序列变异,导致她同时诊断出STL。
■在患有STL的JOAG患者中,这是EFEMP1和COL11A1序列变体的罕见关联。该研究还重申了JOAG与EFEMP1的联系,应该寻找,特别是在常染色体显性JAAG的家庭中。