胎儿先天性原发性无晶状体和小睑裂综合征中新型产前诊断的复合杂合性 PXDN 变异。
Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis.
机构信息
Department of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, Taiwan.
Department of Bioscience Technology, Chung Yuan Christian University, Taiwan; Union Clinical Laboratory, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2022 May;61(3):510-513. doi: 10.1016/j.tjog.2022.03.019.
OBJECTIVE
To precision survey a fetal congenital primary aphakia molecular etiology.
CASE REPORT
A case of 42 years old pregnancy woman prenatal diagnostic examination by amniocentesis conducted at 17 weeks' gestation and demonstrated a normal female karyotype. Trio studies based on chromosome microarray analysis (CMA) and Sanger's genetic analysis did not detect a pathologic variant of the FOXE3 gene. Fetal congenital primary aphakia accompanied with microphthalmia detected by sonography in the second trimester (22 weeks). MRI indicated bilateral absence of the lenses, consistent with primary congenital aphakia. Due to the poor prognosis of congenital aphakia, the parents decided to terminate the fetus and provided consent for an autopsy. Pathological analysis revealed dysplasia of the anterior segment of both eyes. However, post fetal mortem extended trio whole exon sequencing (WES) and Sanger's genetic analysis identified compound heterozygous variants in the chromosomal location 2p25.3 in the PXDN gene.
CONCLUSION
Extended whole exon sequencing is an important tool to study primary congenital aphakia.
目的
精准调查胎儿先天性原发性无晶状体的分子病因。
病例报告
一名 42 岁孕妇于妊娠 17 周时接受羊膜穿刺术产前诊断检查，结果显示女性核型正常。基于染色体微阵列分析（CMA）和 Sanger 遗传分析的三核苷酸研究未检测到 FOXE3 基因的病理性变异。中孕期（22 周）超声检查发现胎儿先天性原发性无晶状体伴小眼球。MRI 显示双眼晶状体缺失，符合原发性先天性无晶状体。由于先天性无晶状体的预后较差，父母决定终止胎儿妊娠，并同意进行尸检。病理分析显示双眼前段发育不良。然而，胎儿死后扩展三核苷酸全外显子测序（WES）和 Sanger 遗传分析发现 PXDN 基因的 2p25.3 染色体位置存在复合杂合变异。
结论
扩展全外显子测序是研究先天性原发性无晶状体的重要工具。
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