Table 15 Ion transport and regulation

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)

Martínez-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