From: The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
Citation | Title | Author affiliation | Case # | Ancestry | Study design | CNS phenotype | Non-CNS phenotype | Type of hydrocephalus | Genetic methodology | Genetic analysis | Inheritance | Genetic finding |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Castañeyra-Ruiz1 et al., 2013 [375] | Aquaporin-4 expression in the cerebrospinal fluid in congenital human hydrocephalus | Facultad de Medicina, Universidad de La Laguna, La Laguna, Tenerife, Canary Island, Spain | 13 Subjects, 4 Controls | - | Case series | Isolated hydrocephalus |  | Communicating, Obstructive | Gene expression | Western blot, ELISA assay | - | 18q11.2 (AQP4) |
Kvarnung et al., 2016 [376] | Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy | Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden | 2 Subjects | Somalian | Case series | Intellectual disability, glomerular vasculopathy in the central nervous system, hypokinesia/akinesia | Arthrogryphosis | - | TES | Variant analysis, sanger sequencing | AR | 14q24.3 (FLVCR2) |
Lalonde et al., 2010 [377] | Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing | McGill University and Genome Quebec Innovation Centre, Montreal, Canada | 2 Subjects | French Canadian | Case series | CNS microcalcifications and hyperplastic microvessels forming glomeruloid structures | Arthrogryposis multiplex, webbing of joints, muscular atrophy | Obstructive | WES | Variant analysis, SNP | AR | 14q24.3 (FLVCR2) |
MartÃnez-Glez et al., 2010 [378] | Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria | Hospital Universitario La Paz, Madrid, Spain | 13 Subjects | Spain | Case series | Megalencephaly, Chiari I, Sylvius aqueduct stenosis, polymicrogyria and hypocampic nodular hypocampic, septum pellucidum bifida, hemimegaloencephaly, tonsillar herniation, polymicrogyria, subependymal cyst | Both overgrowth/asymmetry, capillary malformations, skeletal abnormalities | Communicating | Cytogenetics, TGS, genotyping | G-banding, MLPA, SNP | - | 17p13: ABR, YWHAE, SMYD4, TRPV3 |
Meyer et al., 2010 [111] | Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome) | Institute of Biomedical Research, University of Birmingham, Birmingham, UK | 7 Subjects, 646 Controls | Pakistan | Case series | Hydranencephaly, brain stem, basal ganglia, and spinal cord diffuse clastic ischemic lesions with calcifications | Glomeruloid vasculopathy of the retinal vessel, akinesia deformation sequence (FADS) with muscular neurogenic atrophy | Obstructive | Genotyping | SNP, microsatellite marker assay | AR | 14q24.3 (FLVCR2) |
Özdemir et al., 2016 [379] | Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association | Pamukkale University Faculty of Medicine, Denizli, Turkey | 1 Subject | - | Case study | Isolated hydrocephalus | Renal abnormalities | Communicating | Cytogenetics | Karyotyping | AR | - |
Thomas et al., 2010 [380] | High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy | Hôpital Necker-Enfants Malades, Paris, France | 16 Subjects, 2 Controls | Turkish | Case series | Brain angiogenesis, hydranencephaly | Arthrogryposis/pterygia | Obstructive | TGS | Homozygosity mapping, SNP, cycle sequencing | AR | 14q24.3 (FLVCR2) |
Visapää et al., 1999 [381] | Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25 | National Public Health Institute, Helsinki, Finland | 15 Subjects, 20 Family Members, 41 Controls | Finnish | Case series | Absent midline structures of the brain | Micrognathia, polydactyly, anomalous eyes and nose, and a keyhole-shaped defect of the occipital bone, cleft lip or palate, anomalous or low-set ears, abnormal larynx or trachea, defective lobulation of the lungs, congenital heart defect, abnormal genitalia, and club feet | Communicating | Genotyping | Radiation-hybrid mapping, two-point and multipoint linkage analysis | AR | 11q23-25 |