Prenatal genetic analysis of a fetus with Miller-Dieker syndrome
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目的 探讨1例超声提示双侧侧脑室增宽胎儿的遗传学病因。 方法 采集胎儿的脐带血样及其父母的外周血样，对胎儿进行染色体核型分析，对胎儿及其父母应用微阵列比较基因组杂交(aCGH)技术进行拷贝数变异(CNV)分析，用qPCR技术验证候选致病CNV，用Goldeneye DNA身份鉴定系统确认生物学关系。 结果 胎儿的染色体核型未见异常。aCGH分析结果提示其17p13.3区存在1.16 Mb的杂合缺失(1615572_2777617)×1，部分覆盖Miller-Dieker综合征(MDS)核心区域，同时17p12区域还存在1.33 Mb的杂合缺失(14111772_15442066)×1，该缺失可导致遗传性压力易感性周围神经病(HNPP)。孕妇外周血17p12区存在1.33 Mb杂合缺失(14111772_15442066)×1。胎儿父亲外周血检测未见异常。qPCR分析结果提示胎儿脐带血17p13.3和17p12区域以及孕妇外周血17p12区域基因表达量约为正常对照的1/2。亲缘关系鉴定结果显示胎儿父母确为其生物学父母，胎儿父母选择继续妊娠。 结论 胎儿确诊为新发变异MDS，脑室增宽可能是MDS胎儿产前超声的一个重要指标。 Objective To explore the genetic basis for fetus with bilateral lateral ventriculomegaly. Methods Fetus umbilical cord blood and peripheral blood samples of its parents were collected. The fetus was subjected to chromosomal karyotyping, whilst the fetus and its parents were subjected to array comparative genomic hybridization (aCGH). The candidate copy number variation (CNV) were verified by qPCR, Application goldeneye DNA identification system was used to confirm the parental relationship. Results The fetus was found to have a normal karyotype. aCGH analysis indicated that it has carried a 1.16 Mb deletion at 17p13.3, which partially overlapped with the critical region of Miller-Dieker syndrome (MDS), in addition with a 1.33 Mb deletion at 17p12 region, which is associated with hereditary stress-susceptible peripheral neuropathy (HNPP). Its mother was also found to harbor the 1.33 Mb deletion at 17p12. qPCR analysis confirmed that the expression levels of genes from the 17p13.3 and 17p12 regions were about the half of that in the normal control, as well as the maternal peripheral blood sample. Parental relationship was confirmed between the fetus and its parents. Following genetic counseling, the parents has chosen to continue with the pregnancy. Conclusion The fetus was diagnosed with Miller-Dieker syndrome due to the de novo deletion at 17p13.3. Ventriculomegaly may be an important indicator for prenatal ultrasonography in fetuses with MDS.
Objective To explore the genetic basis for fetus with bilateral lateral ventriculomegaly. Methods Fetus umbilical cord blood and peripheral blood samples of its parents were collected. The fetus was subjected to chromosomal karyotyping, whilst the fetus and its parents were subjected to array comparative genomic hybridization (aCGH). The candidate copy number variation (CNV) were verified by qPCR, Application goldeneye DNA identification system was used to confirm the parental relationship. Results The fetus was found to have a normal karyotype. aCGH analysis indicated that it has carried a 1.16 Mb deletion at 17p13.3, which partially overlapped with the critical region of Miller-Dieker syndrome (MDS), in addition with a 1.33 Mb deletion at 17p12 region, which is associated with hereditary stress-susceptible peripheral neuropathy (HNPP). Its mother was also found to harbor the 1.33 Mb deletion at 17p12. qPCR analysis confirmed that the expression levels of genes from the 17p13.3 and 17p12 regions were about the half of that in the normal control, as well as the maternal peripheral blood sample. Parental relationship was confirmed between the fetus and its parents. Following genetic counseling, the parents has chosen to continue with the pregnancy. Conclusion The fetus was diagnosed with Miller-Dieker syndrome due to the de novo deletion at 17p13.3. Ventriculomegaly may be an important indicator for prenatal ultrasonography in fetuses with MDS.
Miller-Dieker syndromePAFAH1B1 geneHereditary neuropathy with liability to pressure palsies
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