■Stickler综合征（STL）是由胶原蛋白编码基因的致病变异引起的胶原病，主要与Stickler综合征1型（STL1）或2型（STL2）相关的COL2A1或COL11A1，分别。受影响的个体表现为眼部，听觉,关节，和不同程度的颅面发现。先前的文献和病例报告描述了STL患者临床发现的高度变异性。有了这个病例报告,我们拓宽了表型的临床范围。
■关于一个家庭的两个成员（母亲和儿子）的病例报告，包括使用靶向三体全外显子组测序（trio-WES）的临床检查和基因检测。
■一个男孩和他的母亲出现了小眼症，先天性白内障,上睑下垂,和中度至重度感音神经性听力损失。Trio-WES发现了一个新的杂合子错义变体，c.4526A>G;COL11A1中的p(Gln1509Arg)在两个受影响的个体中。
■我们报告了一个先前未描述的表型，该表型与母亲和儿子的COL11A1变体相关，扩大STL2中表型-基因型相关性的范围，表现为小眼症，先天性白内障,上睑下垂通常与Stickler综合征无关。
UNASSIGNED: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or
COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and
case reports describe high variability in clinical findings for patients with STL. With this
case report, we broaden the clinical spectrum of the phenotype.
UNASSIGNED: Case report on two members of a family (mother and son) including clinical examination and genetic testing using targeted trio whole exome sequencing (trio-WES).
UNASSIGNED: A boy and his mother presented with microphthalmia, congenital cataract, ptosis, and moderate-to-severe sensorineural hearing loss. Trio-WES found a novel heterozygote missense variant, c.4526A>G; p(Gln1509Arg) in
COL11A1 in both affected individuals.
UNASSIGNED: We report a previously undescribed phenotype associated with a
COL11A1-variant in a mother and son, expanding the spectrum for phenotype-genotype correlation in STL2, presenting with microphthalmia, congenital cataract, and ptosis not normally associated with Stickler syndrome.
