Department of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, Taipei, Taiwan; School of Medicine, Chang Gung University, Taoyuan, Taiwan.
Department of Obstetrics and Gynecology, Sabah Women's and Children's Hospital, Sabah, Malaysia.
Taiwan J Obstet Gynecol. 2021 Mar;60(2):359-362. doi: 10.1016/j.tjog.2021.01.017.
Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owing to a genetic mutation in COL2A1.
We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction.
We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum.
由基因突变引起的骨骼发育不良是一组遗传性疾病，影响胎儿期的骨骼发育。成骨不全症是骨骼发育不良的一种，是一种常染色体显性结缔组织疾病，由于 COL2A1 中的基因突变导致胶原合成异常。
我们报告了一例 38 岁多产妇的病例，其早孕期筛查显示正常核型。然而，20 周后双侧股骨和肱骨长度对称性缩短。对导致骨骼发育不良的潜在基因突变的下一代测序检测到 COL2A1 中的一个新的从头突变（c.1438G>A，p.Gly480Arg），导致 1 型成骨不全症。这种致病突变可能会破坏或使胶原结构不稳定，导致 II 型、IX 型和 XI 型胶原功能障碍。
我们在 COL2A1 中发现了一个与 STL1 综合征相关的新的从头突变，并描绘了骨骼发育不良疾病谱的范围。
