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Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.

作者信息

Al-Murshedi Fathiya, Mirza Hassan, Al-Saegh Abeer, Al-Nabhani Maryam, Al-Shabibi Saud, Baawain Saleh, Al-Futaisi Amna, Al-Shehhi Wafaa, Al-Maawali Almundher

机构信息

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.

出版信息

Clin Genet. 2020 Nov;98(5):520-521. doi: 10.1111/cge.13838. Epub 2020 Sep 9.

DOI:10.1111/cge.13838
PMID:32901920
Abstract
摘要

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Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.与FLVCR2变异相关的非致死性福勒综合征表型的变异性
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Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine.一名患有FLVCR2突变且产前接触过可卡因的新生儿出现积水性无脑畸形。
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Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.与福勒综合征及婴儿期后存活相关的FLVCR2基因突变。
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Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).FLVCR2 基因突变与增生性血管病变和无脑回-脑积水综合征（福勒综合征）有关。
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Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.增殖性血管病与积水性无脑-脑积水综合征或福勒综合征：一家系报告及对疾病机制的见解
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High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.高通量测序 4.1Mb 连锁区间揭示致死性脑血管病中 FLVCR2 的缺失和突变。
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Hyperbole as Harmful as Cocaine.
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The Fowler syndrome-associated protein FLVCR2 is an importer of heme.Fowler 综合征相关蛋白 FLVCR2 是血红素的输入蛋白。
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A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.一种导致中度转运缺陷的低表达FLVCR2变体可引起伴有脑钙化的积水性无脑综合征。
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MFSD7c functions as a transporter of choline at the blood-brain barrier.MFSD7c 在血脑屏障中作为胆碱的转运体发挥作用。
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Integrative genetic analysis identifies FLVCR1 as a plasma-membrane choline transporter in mammals.
综合遗传分析鉴定出 FLVCR1 为哺乳动物的质膜胆碱转运体。
Cell Metab. 2023 Jun 6;35(6):1057-1071.e12. doi: 10.1016/j.cmet.2023.04.003. Epub 2023 Apr 25.