Abstract：
BACKGROUND: Although rare, several mutations in the gene VSX2 (visual system homeobox 2, formerly CHX10) have been associated with congenital autosomal recessive anophthalmia (absence of one or both eyes). This report describes a proband, who at presentation was gravida 2, para 0, and 30 weeks pregnant.
METHODS: A 30-year-old woman with congenital bilateral anophthalmia was 30 weeks pregnant at the time of presentation. Her parents were fourth-generation collateral blood relatives, and the familial congenital disease history suggested a possible genetic cause for her anophthalmia. Next generation sequencing and Sanger sequencing of blood samples of the patient, her parents, and her husband were conducted. The fetus was examined via ultrasound.
RESULTS: The woman patient had a homozygous variation of the VSX2 gene (NM_182894.2) c.634delC (p.R211 Gfs*90). Both of her parents carried a heterozygous variation of this locus. The husband showed no pathogenic variation in VSX2. The fetal ultrasound revealed bilateral eyeball lenses. A healthy girl was delivered at 41 weeks gestation, with bilateral eyeballs visible.
CONCLUSIONS: Homogenous mutation of VSX2 c.634delC (p.R211Gfs*90) has not been reported previously. The patient\'s congenital bilateral anophthalmia was due to this homogenous mutation, the result of familial inbreeding. Avoiding near-relative marriage is an important means of preventing such diseases.
METHODS: A 30-year-old woman with congenital bilateral anophthalmia was 30 weeks pregnant at the time of presentation. Her parents were fourth-generation collateral blood relatives, and the familial congenital disease history suggested a possible genetic cause for her anophthalmia. Next generation sequencing and Sanger sequencing of blood samples of the patient, her parents, and her husband were conducted. The fetus was examined via ultrasound.
RESULTS: The woman patient had a homozygous variation of the VSX2 gene (NM_182894.2) c.634delC (p.R211 Gfs*90). Both of her parents carried a heterozygous variation of this locus. The husband showed no pathogenic variation in VSX2. The fetal ultrasound revealed bilateral eyeball lenses. A healthy girl was delivered at 41 weeks gestation, with bilateral eyeballs visible.
CONCLUSIONS: Homogenous mutation of VSX2 c.634delC (p.R211Gfs*90) has not been reported previously. The patient\'s congenital bilateral anophthalmia was due to this homogenous mutation, the result of familial inbreeding. Avoiding near-relative marriage is an important means of preventing such diseases.
摘要：
背景：虽然罕见，VSX2(视觉系统同源异型盒2,以前为CHX10)基因的几个突变与先天性常染色体隐性遗传性无眼症(一只或两只眼睛缺失)相关.这份报告描述了一个先证者，介绍时的孕妇为孕妇2，第0和30周。
方法：一名患有先天性双侧无眼炎的30岁女性在就诊时怀孕30周。她的父母是第四代旁系亲属，家族性先天性疾病史提示了她无眼的可能遗传原因。患者血液样本的下一代测序和Sanger测序，她的父母,和她的丈夫进行。通过超声检查胎儿。
结果：该女性患者具有VSX2基因的纯合变异（NM_182894.2）c.634delC（p。R211Gfs*90)。她的父母都携带该基因座的杂合变异。丈夫在VSX2中未显示致病性变异。胎儿超声显示双侧眼球晶状体。一个健康的女孩在妊娠41周时分娩，双侧眼球可见。
结论：VSX2c.634delC的同源突变（p。R211Gfs*90）以前没有报道。患者的先天性双侧无眼是由于这种同质突变，家族近亲繁殖的结果.避免近亲婚姻是预防此类疾病的重要手段。
方法：一名患有先天性双侧无眼炎的30岁女性在就诊时怀孕30周。她的父母是第四代旁系亲属，家族性先天性疾病史提示了她无眼的可能遗传原因。患者血液样本的下一代测序和Sanger测序，她的父母,和她的丈夫进行。通过超声检查胎儿。
结果：该女性患者具有VSX2基因的纯合变异（NM_182894.2）c.634delC（p。R211Gfs*90)。她的父母都携带该基因座的杂合变异。丈夫在VSX2中未显示致病性变异。胎儿超声显示双侧眼球晶状体。一个健康的女孩在妊娠41周时分娩，双侧眼球可见。
结论：VSX2c.634delC的同源突变（p。R211Gfs*90）以前没有报道。患者的先天性双侧无眼是由于这种同质突变，家族近亲繁殖的结果.避免近亲婚姻是预防此类疾病的重要手段。
