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一例Stickler综合征胎儿的产前超声表型及家系遗传学分析

Ultrasonographic manifestation and genetic analysis of a fetus with Stickler syndrome
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摘要 目的探讨1例有小下颌生育史,再次妊娠超声发现胎儿小下颌的家系的遗传学病因。方法对胎儿进行系统超声检查,回顾第1胎的产前及生后超声表型及家系成员的表型,用全外显子组测序(whole exome sequencing,WES)对胎儿羊水标本及其父母的外周血样进行变异筛查,对候选变异进行Sanger测序验证。结果系统超声检查提示胎儿具有小下颌畸形。前1胎产前检查提示为小下颌,出生后表现为巨大儿,舌后坠,呼吸困难,高腭弓,小下颌。WES检测提示胎儿携带COL2A1基因第1外显子c.3G>C(p.Met1?)杂合变异,遗传自父亲,母亲及其他家系成员均未检测到该变异,该变异查询HGMD等数据库未见收录。胎儿父亲具有高度近视伴视网膜脱离,下颌偏小。其他家系成员无类似表型。胎儿父母选择终止妊娠,引产儿外观为小下颌畸形。结论Stickler综合征在产前主要表现为小下颌畸形,出生后表型差异较大。COL2A1基因c.3G>C(p.Met1?)可能是该家系的致病变异。 Objective To carry out genetic analysis for a family with a fetus manifesting micrognathia and a previous history for fetal micromandibular deformity.Methods Systematic ultrasound examination was carried out for the fetus,and the prenatal and postnatal phenotype of the first fetus were retrospectively analyzed.The fetus and his parents were subjected to whole exome sequencing(WES)to identify potential pathogenic variants.Candidate variants were verified by Sanger sequencing.Results Fetal ultrasound has indicated micrognathia.The first fetus was found to have micrognathia by prenatal ultrasonography and have featured macrosomia and dyspnea due to with tongue retraction,high palatal arch and small mandibular deformity.WES revealed that the fetus has a harbored a c.3G>C(p.Met1?)variant of the COL2A1 gene,which was inherited from the father who had myopia and retinal detachment.Conclusion Stickler syndrome is mainly characterized prenatally by micrognathia,in addition with a variety of postnatal anomalies.The c.3G>C(p.Met1?)variant probably underlay the Stickler syndrome in this pedigree.
作者 房晓华 朱朝锋 孔祥东 刘宁 Fang Xiaohua;Zhu Chaofeng;Kong Xiangdong;Liu Ning(Genetic and Prenatal Diagnosis Center,Department of Obstetrics and Gynecology,The First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)
出处 《中华医学遗传学杂志》 CAS CSCD 2022年第7期735-738,共4页 Chinese Journal of Medical Genetics
基金 国家自然科学基金(81701533)。
关键词 Stickler综合征 COL2A1基因 全外显子组测序 基因变异 Stickler syndrome COL2A1 gene Whole exome sequencing Genetic variant
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