A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.

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Title: A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.
Authors: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy. mscala.md@gmail.com.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy. mscala.md@gmail.com., Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Uyen Le TN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Zhang Y; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Wu Y; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Madia F; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Shams Nosrati MS; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Dostmohammadi A; Department of Bioinformatics and Computational Biophysics, Faculty of Biology and Centre for Medical Biotechnology (ZMB), University of Duisburg-Essen, Essen, Germany., Capra V; Genomics and Clinical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Paladini D; Fetal Medicine and Surgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Buffelli F; Clinical Pathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Fulcheri E; Clinical Pathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Cappato S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Menta L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy., Bocciardi R; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. bchnnl@nus.edu.sg.; SLING and Immunology Program, Life Sciences Institute, Centre for Life Sciences, National University of Singapore, Singapore, Singapore. bchnnl@nus.edu.sg.; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. bchnnl@nus.edu.sg.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Mar; Vol. 34 (3), pp. 324-332. Date of Electronic Publication: 2025 Mar 25.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-025-01836-7