| Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). | |
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MedLine Citation:
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PMID: 20206334 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder characterized by hydranencephaly; brain stem, basal ganglia, and spinal cord diffuse clastic ischemic lesions with calcifications; glomeruloid vasculopathy of the central nervous system and retinal vessels; and a fetal akinesia deformation sequence (FADS) with muscular neurogenic atrophy. To identify the molecular basis for Fowler syndrome, we performed autozygosity mapping studies in three consanguineous families. The results of SNP microarrays and microsatellite marker genotyping demonstrated linkage to chromosome 14q24.3. Direct sequencing of candidate genes within the target interval revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome. FLVCR2 encodes a transmembrane transporter of the major facilitator superfamily (MFS) hypothesized to be involved in regulation of growth, calcium exchange, and homeostasis. This is the first gene to be associated with Fowler syndrome, and this finding provides a basis for further studies to elucidate the pathogenetic mechanisms and phenotypic spectrum of associated disorders. |
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Authors:
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Esther Meyer; Christopher Ricketts; Neil V Morgan; Mark R Morris; Shanaz Pasha; Louise J Tee; Fatimah Rahman; Anne Bazin; Bettina Bessières; Pierre Déchelotte; Mohamed T Yacoubi; Mudher Al-Adnani; Tamas Marton; David Tannahill; Richard C Trembath; Catherine Fallet-Bianco; Phillip Cox; Denise Williams; Eamonn R Maher |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-03-04 |
Journal Detail:
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Title: American journal of human genetics Volume: 86 ISSN: 1537-6605 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-10 Completed Date: 2010-04-15 Revised Date: 2010-09-14 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 471-8 Citation Subset: IM |
Copyright Information:
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Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, B15 2TT, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Amino Acid Sequence Amino Acid Substitution Animals Base Sequence Chromosomes, Human, Pair 14 / genetics Consanguinity Conserved Sequence DNA / genetics Female Genes, Recessive Germ-Line Mutation* Humans Hydranencephaly / genetics* Hydrocephalus / genetics* Male Membrane Transport Proteins / genetics* Mice Models, Molecular Molecular Sequence Data Oligonucleotide Array Sequence Analysis Pedigree Phenotype Polymorphism, Single Nucleotide Pregnancy Protein Structure, Tertiary Receptors, Virus / genetics* Sequence Homology, Amino Acid Syndrome Vascular Diseases / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/FLVCR1 protein, human; 0/Membrane Transport Proteins; 0/Receptors, Virus; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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