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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Balasubramanian et al., 2015 [77] | CRTAP mutation in a patient with Cole-Carpenter syndrome | Sheffield Children's NHS Foundation Trust, UK | 1 Subject | Asian Pakistan | Case subject | Thoraco-lumbar scoliosis and sutural craniosynostosis | Osteogenesis imperfecta, bilateral limb deformities, joint hypermobility, prominent eyes with a proptotic appearance, greyish blue sclerae, and dentinogenesis imperfecta | Communicating | TGS | Variant analysis | - | 3p22.3 (c.118G > T mutation in exon 1 of the CRTAP gene) |
Çiftçi et al., 2003 [326] | Ligneous conjunctivitis, hydrocephalus, hydrocele, and pulmonary involvement in a child with homozygous type I plasminogen deficiency | University of Ankara Medical School, 06100, Dikimevi Ankara, Turkey | 1 Subject, 2 Parents, 1 Control | Turkish | Case study | Isolated hydrocephalus | Tracheal pseudomembranes, bilateral hydrocele and unilateral inguinal hernia | Obstructive | TGS | SSCP, direct sequencing | AR | 6q26 (L650fsX652 mutation (deletion of 2081C)) |
Cormand et al., 1999 [327] | Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping | University of Helsinki, Finland | 12 Subjects, 27 Controls | Finnish, Turkish | Case series | Intellectual disability, polymicrogyria-pachygyria-type neuronal migration disorder of the brain | Ocular abnormalities, congenital muscular dystrophy | Communicating | Genotyping | Linkage analysis, haplotype analysis | AR | 1p34.3 (COL8A2), 1p21.2 (VCAM1), 1p34.2 (PTPRF) |
Cotarelo et al., 2008 [328] | Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome | Universidad Autónoma de Madrid, Madrid, Spain | 2 Subjects, 3 Family Members | Ashkanazi Jewish, Spanish | Case series | Overriding cranial bones, monolobar holoprosencephaly, interhemispheric cyst, incomplete cleavage of the thalamus and corpora quadrigemina, an absent corpus callosum and rhombencephalic hypoplasia | Microphtalmia, atrial septal defect, double subaortic ventricular defect, hypoplastic left ventricle outlet, stenotic pulmonary valve and infundibular transposition of great vessels with no innominate vein, and retinal dysplasia | External and internal | TGS | Restriction endonuclease enzyme analysis, PCR | AR | 9q31.2 (FKTN) |
de Bernabé et al., 2003 [329] | A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype | University Medical Centre Nijmegen, Nijmegen, Netherlands | 30 Subjects, 105 Controls | Japanese | Case series | Cobblestone lissencephaly with agenesis of the corpus callosum, fusion of hemispheres, hydrocephalus, dilatation of the fourth ventricle, cerebellar hypoplasia, hydrocephalus, and sometimes encephalocele | Eye malformations and congenital muscular dystrophy | Communicating | TGS | Linkage analysis, direct sequencing, SSCP | AR | 9q31.2 (FKTN) |
Horn et al., 2011 [330] | Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene | Charité-Universitätsmedizin Berlin, Berlin, Germany | 1 Subject, 150 Controls | German | Case study | Psychomotor delay, hypotonia | Triangular facial shape, large head with a broad and prominent forehead, deep set eyes with proptosis, downward slanting palpebral fissures, and a high nasal bridge, highly arched palate and mild retrognathia, generalized lipodystrophy, long fingers and toes, bilateral pes valgus | - | TGS, cytogenetics | Karyotyping, aCGH | AD | 15q21.1 (FBN1) |
Kondo-lida et al., 1999 [331] | Novel mutations and genotype–phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD) | Human Genome Center, Institute of Medical Science, University of Tokyo, Japan | 19 Subjects, 50 Controls | Japanese | Case series | Intellectual delay micropolygyria, pachygyria and agyria | Congenital muscular dystrophy, eye abnormalities | Communicating | TGS | SSCP, direct sequencing | De novo | 9q31, gene FCMD |
Kroes et al., 2003 [78] | Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile | University Medical Center WKZ, Internal mail KC 04.084.2, Lundlaan 6, 3584 EA Utrecht, the Netherlands | 2 Subjects | - | Case series | Macrocephaly | Blue sclerae, unilateral clubfoot, esophageal atresia, joint hyperlaxity | Communicating | TGS | - | - | 2q32.2 (COL3A1) |
Radmanesh et al., 2013 [332] | Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities | University of California, San Diego, CA, USA | 2 Subjects, 200 Controls | Egyptian and Turkish | Case series | Cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele | Minor optic atrophy | Communicating | WES | Sanger sequencing | AR | 7q31.1 (LAMB1) |
Saito et al., 2000 [333] | Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy | Tokyo Women's Medical University, School of Medicine, Japan | 56 Subjects, 82 Controls | Japanese | Case series | Cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia | Congenital muscular dystrophy, eye abnormalities | Communicating | Allelotyping | Haplotype analysis, microsatellite marker assay | AR | FCMD gene |
Schott et al., 1998 [334] | Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency | Klinikum Mannheim, University of Heidelberg, Germany | 1 Subject, 1 Control, 2 Parents, 1 Brother | Turkish | Case study | Macrocephalus | Pseudomembranous conjunctivitis, ligneous conjunctivitis | - | TGS | SSCP, cycle sequencing, restriction enzyme analysis | AR | 6q26 (plasminogen gene (Glu460Stop mutation)) |
Schuster et al., 1997 [335] | Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis | Children's Hospital, University of Würzburg, Germany | 2 Subjects, 2 Parents, 1 Sister, 1 Control | Turkish | Case study | Macrocephaly | Pseudomembranous lesions of other mucous membranes in the mouth, nasopharynx, trachea, and female genital tract | Obstructive | TES | SSCP, restriction enzyme analysis | AR | 6q26 (Plasminogen gene) |
Schuster et al., 1999 [336] | Prenatal diagnosis in a family with severe type I plasminogen deficiency, ligneous conjunctivitis and congenital hydrocephalus | Children's Hospital, University of Würzburg, Germany | 1 Subject, 2 Parents, 1 Control | Turkish | Case study | Isolated hydrocephalus | Pseudomembranous conjunctivitis, ligneous conjunctivitis | Obstructive | TES | SSCP | AR | 6q26 (Plasminogen gene) |
Tonduti et al., 2015 [337] | Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations | Université Paris Diderot-Sorbonne Paris Cité and INSERM U1141-DHU Protect, Paris, France | 2 Subjects, 100 Control | - | Case series | Cerebral palsy, epilepsy, spastic tetraplegia, intellectual disability | Lens opacification, optic atrophy | Unclear | WES | Sanger sequencing, segregation analysis | - | 7q31.1 (LAMB1) |
Van der Knaap et al., 2006 [338] | Neonatal porencephaly and adult stroke related to mutations in collagen IV A1 | VU University Medical Center, Amsterdam, the Netherlands | 3 Subjects, 192 Controls | Dutch | Case series | Leukoencephalopathy, porencephalic cysts, cerebral microangiopathies | Cataracts, blood vessel defects | Obstructive (blood, calcifications) vs. Porencephaly | - | - | AD | 13q34 (mutation in the COL4A1) |
Yang et al., 2017 [339] | Novel FREM1 mutations are associated with severe hydrocephalus and shortened limbs in a prenatal case | The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China | 1 Subject, 200 Controls | Chinese | Case study | Isolated hydrocephalus | Short limbs | - | WES | Sanger sequencing | - | 9p22.3 (FREM1) |