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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)
American Journal of Human Genetics, Volume 86, No. 3, Year 2010
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Description
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. © 2010 The American Society of Human Genetics.
Authors & Co-Authors
Meyer, Esther
Unknown Affiliation
Ricketts, Christopher J.
Unknown Affiliation
Morgan, Neil V.
Unknown Affiliation
Morris, Mark R.
Unknown Affiliation
Pasha, Shanaz
Unknown Affiliation
Tee, Louise
Unknown Affiliation
Rahman, Fatimah
Unknown Affiliation
Bazin, Anne
Unknown Affiliation
Bessières, Bettina
Unknown Affiliation
Déchelotte, Pierre
Unknown Affiliation
Yacoubi, Mohamed Tahar
Unknown Affiliation
Al-Adnani, Mudher
Unknown Affiliation
Marton, Tamas
Unknown Affiliation
Tannahill, David
Unknown Affiliation
Trembath, Richard C.
Unknown Affiliation
Fallet-Bianco, Catherine
Unknown Affiliation
Cox, Phillip
Unknown Affiliation
Williams, Denise K.
Unknown Affiliation
Mäher, Eamonn Richard
Unknown Affiliation
Statistics
Citations: 56
Authors: 19
Affiliations: 9
Identifiers
Doi:
10.1016/j.ajhg.2010.02.004
ISSN:
00029297
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health