Table 7 Vesicle regulation and cell adhesion
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 findings |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Al-Dosari et al., 2013 [279] | Mutation in MPDZ causes severe congenital hydrocephalus | King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia | 1 Subject, 50 Controls | Saudi | Case series | Callosal agenesis, hypotonia | Chorioretinal coloboma, atrial septal defect | Communicating | TGS, genotyping | Autozygosity mapping, linkage analysis, sanger sequencing | AR | 9p23 (MPDZ) |
Al-Jezawi et al., 2018 [280] | Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus | College of Medicine and Heath Sciences, United Arab Emirates University | 1 Subject, 2 Parents, 100 Controls | United Arab Emirates | Case study | Isolated hydrocephalus | Large head with frontal bossing and high arched palate | Communicating | WES | Variant analysis, sanger sequencing | AR | 9p23 (MPDZ) |
DeMari et al., 2016 [62] | CLTC as a clinically novel gene associated with multiple malformations and developmental delay | SUNY Upstate Medical University, Syracuse, New York | 1 Subject, 2 Parents | Caucasian | Case study | Hypotonia | Prominent jaw, large anterior fontanel, bilateral hip laxity, and jaundice, low-set ears, depressed nasal bridge, anteverted nares, widely set involuted nipples | Communicating | WGS, cytogenetics | Karyotype, SNP microarray, co-segregation analysis, sanger sequencing | De novo | 17q23.1 (A heterozygous de novo frameshift mutation, c.2737_2738dupGA p.D913Efs*59) |
Mégarbané et al., 2013 [281] | Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia | Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Pôle Technologie Santé, Université Saint-Joseph, Beirut, Lebanon | 1 Subject, 1 Control | Iraqi | Case study | Macrocephaly, Brain atrophy, thin corpus callosum | Proptosis of the eyes, skeletal abnormality, strabismus, splenomegaly and joint hyperlaxity | Communicating | TGS | Direct sequencing | AR | 7p15.2 (SNX10 gene) |
Rajadhyax et al., 2007 [63] | Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly | Genetics and Neurosurgery, Leeds General Infirmary, UK | 1 Subject | Asian | Case study | Sixth nerve palsy, increased muscle tone | Patchy hyperpigmentation on the lower limbs, hemophagocytic lymphohistiocytosis | Obstructive | TGS | - | AR | 2q36.3 (RAB27A) |
Reis et al., 2008 [282] | Mutation analysis of B3GALTL in Peters Plus syndrome | Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA | 8 Subjects, 180 Controls | Dutch | Case series | Intellectual disability | Central corneal opacity, defects in the posterior layers of the cornea, and lenticulo-corneal and/or irido-corneal adhesions, short stature, short broad hands with fifth finger clinodactyly, distinctive facial features, cleft lip and/or cleft palate, hearing loss, abnormal ears, heart defects, genitourinary anomalies | Communicating | TGS | Direct sequencing, | AR | 13q12.3 (beta1,3-glucosyltransferase gene (B3GALTL)) |
Rodriguez et al., 2001 [283] | Infantile Alexander disease: spectrum of GFAP mutations and genotype–phenotype correlation | Laboratoire de Neurogénétique Moléculaire, INSERM U546, Université Paris VI, France | 15 Subjects, 50 Controls | - | Case series | Macrocephaly, psychomotor regression, seizures, and spasticity | Respiratory difficulties | Communicating | TES | - | De novo | 17q21.31 (Missense, heterozygous, de novo GFAP mutations (R79H; four had R239C; and one had R239H)) |
Sakakibara et al., 2007 [284] | A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis | Nara Medical University, Japan | 1 Subject | - | Case study | Megalencephalic, seizures, white matter abnormalities | Bulbar paralysis | Obstructive | TGS | - | AD | 17q21.31 (R239H mutation of glial fibrillary acidic protein(GFAP)) |
Saugier-Veber et al., 2017 [285] | Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene | Normandie Univ, UNIROUEN, INSERM U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F76000, Rouen, France | 5 Subjects, 3 Controls | - | Case series | Multifocal ependymal malformations | Â | Obstructive | TGS, cytogenetics | Karyotyping, variant analysis, sanger sequencing, targeted NGS | AR | 9p23 (MPDZ gene) |
Takeyari et al., 2018 [286] | Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D | Osaka University Graduate School of Medicine, Osaka, Japan | 1 Subject | Japanese | Case study | Craniosynostosis | Prominent eye and micrognathia, short neck, scoliosis, and chest deformity, bone fractures, wormian bones, lordosis, and long thin bones | - | TES | Variant analysis, sanger sequencing | - | 4q26 (SEC24D) |
Van der Knaap et al., 2005 [287] | Unusual variants of Alexander's disease | VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands | 10 Subjects, 100 Controls | - | Case series | Cerebral white matter abnormalities, brainstem lesions | Scoliosis, dysphagia, gait disturbances | Obstructive | TGS | - | De novo | 17q21.31 (GFAP) |
Zhang et al., 2020 [288] | Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing | Virginia Tech Carilion School of Medicine, Roanoke, Virginia, USA | 1 Subject, 2 Parents | Â | Case study | Interhemispheric cyst | Cystic hygroma and omphalocele, ocular coloboma, hypertelorism, heart, renal, musculoskeletal system defects | - | TGS | NGS, variant analysis, | AD | 7p22.1 (ACTB) |