Table 14 Transcriptional, post-transcriptional, and epigenetic 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Chen et al., 2020 [367] | Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound | Mackay Memorial Hospital, Taipei, Taiwan | 1 Subject, 2 Parents | - | Case study | Anomalies of corpus callosum, microcephaly | Hypertelorism, large low-set ears, micrognathia, a broad nose, arched eyebrows, prominent forehead and flat nasal bridge | - | Cytogenetics | aCGH, FISH, polymorphic DNA marker analysis | Paternal | 1q42.3-q44 deletion (including 1q43 (RGS7), 1q43 (FH), 1q43 (CEP170), 1q43-44 (AKT3), 1q44 (ZBTB18 and 1q44 (HNRNPU)) |
Diets et al., 2019 [368] | A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus | Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands | 4 Subjects | - | Case series | Choroid plexus hyperplasia w/ papilloma, truncal hypotonia, intellectual disability | Visual impairment, myopia, sleep apnea, joint hypermobility, renal and cardiac anomalies | - | WES | Trio-based exome sequencing | De novo | 22q11.23 (SMARCB1) |
Hale et al., 2021 [9] | Multi-omic analysis elucidates the genetic basis of hydrocephalus | Vanderbilt University School of Medicine, Medical Scientist Training Program, Nashville, TN | 287 Subjects, 18,740 Controls | European | Case series | Various neurological phenotypes | Variable | Gene expression | PrediXcan analysis | Variable | 1q24.1 (MAEL) | |
Hishimura et al., 2016 [106] | Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome | Tenshi Hospital N-12, E-3 Sapporo, Japan | 2 Subjects | Japanese | Case series | Isolated hydrocephalus | Overlapping fingers, hydronephrosis. High, prominent forehead, hypertelorism, and depressed nasal root | - | TES, cytogenetics | G-banding | AD | 18q12.3 (SETBP1) |
Mattioli et al., 2019 [103] | Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability | Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67,400 Illkirch-Graffenstaden, France | 2 Subjects, controls used | European | Case series | Intellectual disability, multiple brain abnormalities | Facial dysmorphism, a cleft palate, micrognathia, choanal atresia, congenital heart defect, micropenis | Communicating | TGS, cytogenetics | Karyotyping, aCGH, SNP | AR | 16p13.3 (THOC6 gene-Trp100Arg, Val234Leu, Gly275Asp) |
Mee et al., 2005 [104] | Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1 | David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA | 24 subjects, 40 Controls | Finland | Case series | Absent midline structures of the brain | Micrognathia, polydactyly, Defective lobation of the lungs, anomalies of the respiratory tract, small chin and anomalous nose | Communicating | Genotyping, TGS | Microsatellite marker analysis, SNP, haplotype analysis, two-point linkage analysis | AR | 11q24.2 (HYLS1 gene) |
Negishi et al., 2015 [369] | Truncating mutation in NFIA causes brain malformation and urinary tract defects | Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan | 1 Subject, Control database used | - | Case study | Ventricular enlargement, callosal agenesis, urinary tract defects, mildly dysmorphic facial features | Urinary tract defects | Communicating | WES | Variant analysis, sanger sequencing | De novo | 1p31.3 (de novo truncating mutation (c.1094delC; p.Pro365Hisfs*32) in the NFIA gene) |
Nyboe et al., 2015 [370] | Familial craniosynostosis associated with a microdeletion involving the NFIA gene | Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark | 4 Subjects | - | Case series | Hypoplasia of the corpus callosum, craniosynostosis, lambdoid synostosis | Dysmorphic features, renal defects | Obstructive | Cytogenetics | aCGH | De novo | 1p31.3 (NFIA gene) |
Shtaya et al., 2019 [371] | Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus | Neurosciences Research Centre, St. George's, University of London, London, United Kingdom; Atkinson Morley Neurosurgery Centre, St. George's University Hospital NHS Foundation Trust, London, United Kingdom | 1 Subject | - | Case study | Widespread intracranial calcifications, cysts, and leukoencephalopathy | Motor developmental delay | Obstructive | - | - | - | 17p13.1 (SNORD118 |
Verkerk et al., 2010 [372] | Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus | Erasmus Medical Center, Rotterdam, The Netherlands | 2 Subjects | Dutch | Case series | Perisylvian polymicrogyria, megalencephaly | Asd, hypothalamic hypothyroidism, kyphoscoliosis, pectus carinatum and rickets, vesicoureteral reflux, high broad forehead, large fontanel, hypertelorism with epicanthic folds, short, upturned nose with hypoplastic nostrils, down turned corners of the mouth with thick vermilion of the lips, high arched palate, small, pointed chin with a vertical groove, large low-set ears, barrel shaped chest with kyphoscoliosis, postaxial polydactyly of the 5th right toe | - | Cytogenetics, WGS | Karyotyping, MLPA, FISH, SNP, CNV | - | 5q35.3 deletion and 20q13.3 trisomy |
Vetro et al., 2015 [373] | Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association | Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy | 3 Subjects, 2 Parents, 3 Controls | Morocco, Dutch | Case series | Aqueductal stenosis, cerebellar hypoplasia | Bilateral radial and thumbs aplasia, hypoplasia of the left shoulder girdle, bilateral club feet, micrognathia, single and ectopic kidney, absent uterus, micropenis, hypoplastic lungs with abnormal lobation, tetralogy of fallot, ventricular septal defect and patent ductus arteriosus, esophageal atresia with tracheoesophageal fistula, anal atresia and rectovaginal fistula | - | WES | Sanger sequencing | AR | 2p16.1 (FANCL truncating mutation) |
Zechi-Ceide et al., 2007 [374] | Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation | Hospital de Reabilitação de Anomalias Craniofaciais Department of Biological Sciences, Universidade Estadual Paulista, Bauru Human Genome Center and Department of Genetics and Evolutionary Biology, Institute of Biosciences, USP, São Paulo, SP, Brazil | 1 Subject, 2 Parents, Controls used | Finnish | Case study | Callosal hypoplasia, intellectual delay | Lip pits, distinct craniofacial dysmorphism with cleft lip and palate | - | TES | Segregation analysis, direct sequencing | AD w/ variable expressivity | 1q32.2 (IRF6) |