Table 19 Lipid structure and regulation
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Meszarosova et al., 2020 [391] | Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers | Second Faculty of Medicine Charles University and University Hospital Motol, Prague | 2 Subjects | Roma | Case series | Hypotonia, cerebellar malformation, lissencephaly, callosum agenesis | Facial dysmorphic features, dysplastic ears, bilateral cataracts, finger contractures on both hands | - | WES | Variant analysis | AR | 4q27 (KIAA1109) |
Shiihara et al., 2000 [392] | Communicating Hydrocephalus in a Patient with Gaucher’s Disease Type 3 | Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Tottori, Japan | 1 Subject, Controls used | Japanese | Case study | Isolated hydrocephalus | Splenomegaly, thrombocytopenia, bilateral papilledema, motor deficits | Communicating | TGS | Restriction enzyme analysis | - | 1q22 (D409H mutation in GBA) |