A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature.
A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature.
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一过性孤立性双侧轻度脑室增大胎儿的p.(Q214*)变异的一个新生杂合子POU3F3基因：病例报告和文献回顾。
DOI：
10.3389/fped.2023.1177137
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发表时间：
2023
影响因子：
2.6
通讯作者：
中科院分区：
文献类型：
--
作者：
孤立性脑室扩大症的产前患病率为0.039%~ 0.087%。大多数孤立的轻度脑室扩大（MV）胎儿（>90%）预后良好。然而，5.6%至7.9%的孤立性MV胎儿有不良的神经发育结果。在这项研究中，我们报告了第一例产前Snijders Blok-Fisher综合征（OMIM：#618604）引起的截断变异POU 3F 3（OMIM：*602480）在胎儿短暂孤立的双边MV。胎儿染色体核型分析、染色体微阵列分析和TORCH感染评估结果均为阴性。然而，NM_006236.3（POU 3F 3）的一种从头可能致病的无义变体：c.640C > T [rs 1254251078] p. (Q214* ）通过全外显子组测序（WES）鉴定。尽管有充分的遗传咨询，母亲拒绝进行进一步的脑磁共振成像（MRI），并决定保留胎儿。她通过足月阴道分娩生下了一个男婴。经过长期的追踪，不幸的是，这名婴儿逐渐出现了运动发育迟缓。先证者出生后头颅MRI表现为胼胝体发育不良和脑室扩大。考虑到此类病例的高误诊率，我们进一步总结了19例POU 3F 3变异患者的产前表型。结果显示，14例患者产前超声表现正常，而只有约26.32%的胎儿显示MV或囊肿，无结构畸形。因此，我们的研究结果扩大了POU 3F 3的变异谱，并建议进行WES和脑MRI时，胎儿有孤立的双边MV的重要性。
The prenatal prevalence of isolated ventriculomegaly is 0.039%–0.087%. Most isolated mild ventriculomegaly (MV) fetuses (>90%) have a favorable prognosis. However, 5.6% to 7.9% of fetuses with isolated MV have adverse neurodevelopmental outcomes. In this study, we reported the first case of prenatal Snijders Blok-Fisher syndrome (OMIM: #618604) caused by a truncating variant of POU3F3 (OMIM: *602480) in a fetus with transient isolated bilateral MV. The results of karyotype analysis, chromosomal microarray analysis, and TORCH infection evaluation for the fetus were all negative. However, a de novo likely pathogenic nonsense variant of NM_006236.3 (POU3F3): c.640C > T [rs1254251078] p.(Q214*) was identified by whole-exome sequencing (WES). Despite sufficient genetic counseling, the mother refused to undertake further brain magnetic resonance imaging (MRI) and decided to keep the fetus. She gave birth to a male infant through a full-term vaginal delivery. With a long-term follow-up, the infant unfortunately gradually presented with delayed motor development. The postnatal brain MRI of the proband showed dysplasia of the corpus callosum and ventriculomegaly. Considering the high probability of misdiagnosis for such cases, we further summarized the prenatal phenotypes from 19 reported patients with variants in POU3F3. The results revealed that 14 patients displayed a normal prenatal ultrasonographic manifestation, while only approximately 26.32% of fetuses showed MV or cysts without structural deformity. Thus our findings expand the variant spectrum of POU3F3 and suggest the importance of undertaking WES and brain MRI when the fetus has isolated bilateral MV.
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DOI：
10.1038/gim.2016.95
发表时间：
2017-02
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Farwell Hagman KD;Shinde DN;Mroske C;Smith E;Radtke K;Shahmirzadi L;El-Khechen D;Powis Z;Chao EC;Alcaraz WA;Helbig KL;Sajan SA;Rossi M;Lu HM;Huether R;Li S;Wu S;Nuñes ME;Tang S
通讯作者：
Tang S
影响因子：
168.9
作者：
Petrovski, Slave;Aggarwal, Vimla;Wapner, Ronald J.
通讯作者：
Wapner, Ronald J.
影响因子：
2
作者：
通讯作者：
--
影响因子：
9.8
作者：
Fox, Nathan S.;Monteagudo, Ana;Norton, Mary E.
通讯作者：
Norton, Mary E.
影响因子：
3.1
作者：
Scelsa, Barbara;Rustico, Mariangela;Veggiotti, Pierangelo
通讯作者：
Veggiotti, Pierangelo