Table 18 Cell cycle and cytoarchitecture
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Alazami et al., 2015 [385] | Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families | King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia | 143 Families | - | Case series | Global developmental delay, autism, epilepsy, primary microcephaly, ataxia, and neurodegeneration (among many others) | Wide Variability | Variable | WES | Autozygosity mapping, sanger sequencing | Variable | 5q35.1 (SPDL1), 2q21.1 (TUBA3E), 15q15.1 (INO80), 1q42.3 (NID1), 1q25.3 (TSEN15), 1p33 (DMBX1), 2p16.1 (CLHC1), 12p13.32 (C12orf4), 15q26.1 (WDR93), 7q31.2 (ST7), 20q13.12 (MATN4), 4q26 (SEC24D), 5q31.3 (PCDHB4), 3p21.31 (PTPN23), 7q22.1 (TAF6), 4q24 (TBCK), 14q13.2 (FAM177A1), 4q27 (KIAA1109), 16q22.1 (MTSS1L), 3p22.2 (XIRP1), 1q41 (KCTD3), 21q22.12-q22.13 (CHAF1B), 1q42.2 (ARV1), 14q24.3 (ISCA2), 17q23.1 (PTRH2), 17p13.3 (GEMIN4), 17p12 (MYOCD), 16q22.1 (PDPR), 17p13.3 (DPH1), 12q15 (NUP107), 17q21.33 (TMEM92), 5q22.1-q22.2 (EPB41L4A), and 9q22.31 (FAM120AOS) |
Houge et al., 2015 [386] | B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability | Haukeland University Hospital, Bergen, Norway | 16 Subjects, Controls used | Dutch, English, Israeli, Norwegian | Case series | Intellectual disability, seizures, callosal agenesis, hypotonia | Frontal bossing, mild hypertelorism, and down slanting palpebral fissures | Communicating | Diagnostic exome sequencing, cytogenetics | Sanger sequencing, NGS, aCGH, SNP | De novo | 6p21.1 (c.C157T, p.P53S; c.G592A, p.E198K; c.G598A, p.E200K; c.C602G, p.P201R; c.T619A, p.W207R in PPP2R5D); 19q13.41 (c.C536T, p.P179L; c.C544T, p.R182W; c.G773A, p.R528H in PPP2R1A) |
Ouyang et al., 2017 [387] | Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report | West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China | 1 Subject, 2 Parents, 1 Control | Chinese | Case subject | Craniosynostosis | Plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features, ocular proptosis, frontal bossing | - | WES | CNV, FQ-PCR | De novo | 17q25.3 (P4HB) |
Rauch et al., 2015 [388] | Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB | Shriners Hospital for Children, Montréal, QC H3G 1A6, Canada | 2 Subjects, Controls used | - | Case series | Craniosynostosis | Bone fractures, ocular proptosis, and distinctive facial features | Communicating | WES | Variant analysis, sanger sequencing | De novo, Mosaic | 17q25.3 (P4HB) |
Slavotinek et al., 2015 (265) [389] | CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein | University of California, San Francisco, San Francisco, CA 94143–2711, USA | 6 Subjects, 6 Parents | Ashkenazi Jewish | Case series | Gray matter heterotopias | Severe, Congenital renal involvement; congenital Nephrotic syndrome | - | WES, cytogenetics | aCGH, Karyotyping, variant analysis, sanger sequencing | AR | 9q33.3 (CRB2) |
Zhang et al., 2020 [390] | Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly | Children's Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, 030013, PR China | 1 Subject, 2 Parents | Chinese | Case study | Isolated hydrocephalus | Echogenic kidneys and bowel, small fetal stomach bubble | - | WES | Variant analysis, sanger sequencing | - | 9q33.3 (CRB2) |