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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Beltran-Valero de Bernabé et al., 2004 [289] | Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome | University Medical Centre Nijmegen, Nijmegen, The Netherlands | 2 Patients, 200 Controls | German, Asian | Case series | Dandy walker-like malformation, intellectual disability | Muscular dystrophy, left ventricular hypertrophy, retinal and eye developmental issues | Communicating | TES | Direct sequencing, linkage analysis | - | 19q13.32 (FKRP) |
Beltrán-Valero de Bernabé et al., 2002 [290] | Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome | University Medical Centre Nijmegen, Nijmegen, The Netherlands | 30 Subjects, 105 Controls | Turkish, Italy, Dutch, Australian | Case series | Cobblestone lissencephaly, occipital encephalocele | Eye malformations, congenital muscular dystrophy or elevated creatine kinase | Obstructive | TES | Linkage analysis, SSCP, restriction enzyme analysis | AR | 9q34.13 (POMT1) |
Biancheri et al., 2006 [291] | POMGnT1 mutations in congenital muscular dystrophy: genotype–phenotype correlation and expanded clinical spectrum | University of Genova, Italy | 3 Subjects, 192 Controls | Italian | Case series | Intellectual disability, epilepsy, and lissencephaly | Congenital muscular dystrophy, ocular abnormalities | Communicating | TGS | Direct sequencing | AR | 1p34.1 (POMGnT1) |
Bouchet et al., 2007 [292] | Molecular heterogeneity in fetal forms of type II lissencephaly | Bichat-Claude Bernard Hospital, Biochimie Métabolique, Paris, France | 47 Subjects, 100 Controls | French | Case series | Agyria, thick leptomeninges, disorganized cortical ribbon, cerebellar dysplasia | Communicating | TGS | - | AR | 9q34.13 (15 in POMT1); 14q24.3 (five in POMT2); 1p34.1 (POMGNT1) | |
Cormand et al., 2001 [293] | Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease | University of Helsinki, Finland | 29 Subjects | Turkish, Netherlands, German, Pakistani, Swedish, Palestinian, Dutch, and American | Case series | Malformation of neuronal migration compatible with cobblestone complex | Elevated serum creatine kinase level or abnormal muscle biopsy, and ocular abnormalities | - | Genotyping | Linkage analysis | AR | MEB gene locus localized to 1p32-p34 |
Currier et al., 2005 [294] | Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome | Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA | 30 Subjects, 110 Controls | Asian, African, and Caucasian | Case series | Cerebellar hypoplasia, brainstem hypoplasia, agenesis of the corpus callosum, agenesis of the septum pellucidum, interhemispheric fusion, and the presence of an encephalocele | Ocular abnormalities, congenital muscular dystrophy | Obstructive | TES | Microsatellite marker assay | AR | 9q34.13 (POMT1) |
Geis et al., 2019 [295] | Clinical long-time course, novel mutations and genotype–phenotype correlation in a cohort of 27 families with POMT1-related disorders | Klinik St. Hedwig, University Children's Hospital Regensburg (KUNO), Steinmetzstr. 1–3, 93,049, Regensburg, Germany | 35 Subjects | German, Turkish, Indonesian, Gipsy, African | Case series | Lissencephaly type II, hypoplasia of the pons and/or brainstem, cerebellar hypoplasia, hypoplasia of the corpus callosum, encephalocele | Muscle weakness, muscular dystrophy, GI malformations | Communicating | TGS | Direct sequencing, sanger sequencing, massive parallel sequencing | AR | 9q34.13 (POMT1) |
Godfrey et al., 2007 [69] | Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan | Hammersmith Hospital, Imperial College, London, UK | 92 Subjects | Australia, Turkey | Case series | Cobblestone lissencephaly | Limb girdle muscular dystrophy, congenital muscular dystrophy, elevated serum ck | Communicating | TGS | Unidirectional sequencing, HA, segregation analysis, | AR, De novo | 9q34.13 (POMT1); 14q24.3 (POMT2); 1p34.1 (POMGnT1); 9q31.2 (FKTN); and 22q12.3 (LARGE) |
Hehr et al., 2007 [296] | Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease | University of Regensburg, Universitätklinikum D3, Franz-Josef-Strauss-Allee 11, Regensburg, Germany | 9 Subjects | German, Turkish, English | Case series | Global developmental delay, seizures, cerebellar cysts, intellectual disability | Congenital muscular dystrophy, se- vere congenital myopia, glaucoma, retinal hypoplasia | Communicating | TGS | Cycle sequencing, linkage analysis, restriction enzyme analysis | AR | 1p34.1 (POMGnT1) |
Ichiyama et al., 2016 [297] | Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency | Kyushu University, Fukuoka, Japan | 1 Subject | Asian | Case study | Isolated hydrocephalus | Slight developmental delay | - | TES | Direct sequencing | - | 2q14.3 (PROC c.574_576delAAG) |
Kano et al., 2002 [298] | Deficiency of alpha-dystroglycan in muscle-eye-brain disease | Osaka University Graduate School of Medicine, 2–2 B9, Yamadaoka, Suita, Osaka, Japan | 3 Subjects, 1 Control | Turkish, French | Case series | Type II lissencephaly, Intellectual disability | Congenital muscular dystrophy, congenital myopia, congenital glaucoma, pallor of the optic discs, retinal hypoplasia, hydrocephalus, myoclonic jerks | Communicating | TGS | - | AR | 1p34.1 (POMGnT1) |
Karadeniz et al., 2002 [299] | De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome | Burak Woman's Hospital, Department of Medical Genetics, Ankara, Turkey | 1 Subject, 2 Parents | - | Case study | Hypoplasia of cerebellar vermis, enlargement of cisterna magna, bilateral dilatation of lateral ventricles, widespread agyria, and irregularity of the white matter-gray matter line | Eye abnormalities with microphthalmia cataract, congenital muscular dystrophy | Communicating | - | G-banding | De novo | translocation t(5;6)(q35;q21) |
Preiksaitiene et al., 2020 [300] | Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families | Vilnius University, Vilnius, Lithuania | 4 Subjects, 98 Controls | Lithuanian | Case series | Isolated hydrocephalus | Highly variable | Dependent on phenotype of dystroglycanopathy | WES | Sanger sequencing | De novo, AR | 8p11.21 (homozygous nonsense variant in the POMK) |
Van Reeuwijk et al., 2005 [301] | POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome | Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands | 3 Subjects, Controls used | Moroccan, Pakistani, Bengali | Case series | Lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cerebellar hypoplasia, and neuronal overmigration | Eye malformations (cataract, microphthalmia, buphthalmos, and peters anomaly) | - | TGS | Homozygosity mapping, direct sequencing | AR | 14q24.3 (POMT2) |
Van Reeuwijk et al., 2006 [302] | The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation | Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands | 28 Subjects, 100 Controls | Italy, Netherlands, Pakistan, Lebanon, India, Qatar, Ireland, turkey | Case series | Lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cerebellar hypoplasia, and neuronal overmigration | Myopia, gait disturbances | Communicating | TGS | Linkage analysis | - | 9q34.13 (POMT1) |
Van Reeuwijk et al., 2010 [303] | A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum | Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands | 2 Subjects, 2 Parents | Caucasian | Case series | Lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cerebellar hypoplasia, and neuronal overmigration | Cataracts, muscular dystrophy | Communicating | TGS | SNP | - | 19q13.32 (FKRP) |
Riemersma et al., 2015 [304] | Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome | Leiden University Medical Center, the Netherlands, Sydney Children's Hospital, University of New South Wales, Sydney, Australia, Rambam Health Care Campus, Haifa, Weizmann Institute of Science, Rehovot, Israel | 5 Subjects, Controls used | Israeli-Arab | Case series | Hypotonia, posterior fossa, a small midline encephalocele, a hypoplastic vermis, intracranial calcifications | Elevated ck, elevated lfts, respiratory failure, bilateral corneal opacities, and glaucoma | Communicating | TES | Homozygosity mapping, CNV, sanger sequencing | - | 3p21.31 (homozygous loss-of-function frameshift mutation in the DAG1 gene) |
Saredi et al., 2012 [305] | Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease | Foundation Neurological Institute C. Besta, Milano, Italy | 3 Subjects, 1 Control | Italian | Case series | Microcephaly, spastic tetraparesis | Rounded forehead, thin lips, short neck, micrognathia, motor disability, eye abnormalitie | Communicating | TGS | Cycle sequencing, MLPA | AR | 1p34.1 (c.643C > T, c.1863delC in POMGnT1) |
Vervoort et al., 2004 [306] | POMGnT1 gene alterations in a family with neurological abnormalities | J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA | 2 Subjects, 2 Parents, 500 Controls | Caucasian | Case series | Hypotonia, bilateral frontal polymicrogyria, abnormal cerebellum, and characteristic flattened dystrophic pons | Congenital muscular dystrophy, congenital glaucoma and severe myopia | - | TGS | Haplotype analysis, SSCP, cycle sequencing | AR | 1p34.1 (POMGnT1) |
Willer et al., 2012 [307] | ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome | University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa, USA | 7 Subjects, Controls used | - | Case series | Cobblestone lissencephaly, severe brainstem hypoplasia with a kink at the isthmus and severe hypoplasia of the cerebellum | Muscular dystrophy, bilateral microphthalmia with cataracts and arrested retinal development | Communicating | TGS, cytogenetics | Linkage analysis, targeted NGS, aCGH, CNV, Sanger sequencing | AR | 7p21 (ISPD mutation) |
Yis et al., 2007 [308] | A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation | University of Dokuz Eylul, 35,340 Izmir, Turkey | 1 Subject, 2 Parents | - | Case study | Type II lissencephaly and pontocerebellar hypoplasia | Severe ocular malformations and congenital muscular dystrophy | Communicating | TGS | Linkage analysis, direct sequencing | AR | 9q34.13 (mutation (R514X) in the POMT1 gene) |
Yoshida et al., 2001 [309] | Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 | Central Laboratories for Key Technology, Kirin Brewery Co., Ltd., Kanazawa-ku, Yokohama, Japan | 6 Subjects | Turkish, French | Case series | Lissencephaly | Congenital muscular dystrophy, ocular abnormalities | Communicating | TGS | Direct sequencing | AR | 1p34.1 (POMGnT1) |