Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
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两个不相关的胎儿具有 ITPR1 错义变异和胎儿水肿。
DOI：
10.1002/pd.6439
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发表时间：
2023
影响因子：
3
通讯作者：
Vora,NeetaL
中科院分区：
文献类型：
--
作者：
Harris,Sarah;Putra,Manesha;Gilmore,KellyL;Vora,NeetaL
我们描述了来自不相关家庭的两个胎儿，其可能具有 ITPR1 致病性变异，且表现出非免疫性胎儿水肿。三重外显子组测序揭示了先证者 1 中 ITPR1 (NM_001378452.1) 中的新生杂合可能致病性错义变异 c.7636G > A (p.Val2531Met) 和先证者 2 中的新生杂合可能致病性错义变异 c.34G > A [p.Gly12Arg]。与多种遗传性疾病有关，包括脊髓小脑共济失调 15、脊髓小脑共济失调 29 和吉莱斯皮综合征。我们对两名患者的报告详细介绍了先前未描述的与 ITPR1 基因错义变异相关的非免疫性胎儿水肿的严重胎儿表现。
We describe two fetuses from unrelated families with likely pathogenic variants inITPR1that presented with nonimmune fetal hydrops. Trio exome sequencing revealed a de novo heterozygous likely pathogenic missense variant c.7636G > A (p.Val2531Met) inITPR1(NM_001378452.1) in proband 1 and a de novo heterozygous likely pathogenic missense variant c.34G > A [p.Gly12Arg] in proband 2. Variants inITPR1have been associated with several genetic conditions, including spinocerebellar ataxia 15, spinocerebellar ataxia 29, and Gillespie syndrome. Our report on two patients details a previously undescribed severe fetal presentation of nonimmune hydrops fetalis associated with missense variants in theITPR1gene.