Table 4 Dandy walker malformation
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aldinger et al., 2009 [230] | FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation | University of Chicago, Chicago, Illinois, USA | 18 Subjects, 2 Controls | - | Case series | Dandy walker—cerebellar malformations | Ocular abnormalities | Communicating | WES | Trio-based sequencing | De novo, maternal translocation, Mosaicism | 6p25.3 (p.S82T and p.S131L in FOXC1) |
Arora et al., 2019 [231] | Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation | Sir Ganga Ram Hospital. New Delhi, India | 1 Subject | - | Case study | Dandy walker—cerebellar malformations, callosal agenesis | Talipes equinovarus, renal cysts | Communicating | WES | Trio-based sequencing | AR | 9q31.2 (c.C411A. p. C137X in exon 5 of FKTN) |
Chen et al., 2009 [232] | A 12 Mb deletion of 6p24.1– > pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys | Mackay Memorial Hospital, Taipei, Taiwan | 1 Subject | - | Case study | Craniosynostosis | Tracheal stenosis, midface hypoplasia, ocular proptosis and digital malformations | Communicating | Cytogenetics | Karyotyping, aCGH | De novo | 6pter/6p24.1 (12 Mb deletion) |
Darbro et al., 2013 [233] | Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles | The University of Iowa, Iowa City, Iowa, USA | 7 Subjects, 348 Controls | Indian, Vietnamese | Case study | Dandy walker malformation, variable cerebellar hypoplasia, meningeal anomalies, and occipital skull defects | - | - | WES | Massively parallel sequencing, Sanger sequencing | AD | 1q25.3 (c.C2237T, p.T746M in LAMC1); 1q42.3 (c.C1162T, p.Q388X in NID1) |
Faqeih et al., 2017 [234] | Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy | Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabian | 7 Subjects | - | Case series | Seizures, poor muscle control and tone, dandy walker malformation | Renal distention, bilateral hip dislocation, scoliosis | Communicating | WES | Sanger Sequencing | De novo | 1q41 (c.1036_1073del, p.P346Tfs*4; c.C166T, p.R56X in KCTD3) |
Gai et al., 2016 [235] | Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome | Central South University, 110 Xiangya Road, Changsha, Hunan 410,078, China | 2 Subjects, Matched Controls used | Chinese | Case study | Mild intellectual disability, hypotonia, ataxia, dysarthria, strabismus, and dandy walker malformation | Cubitus valgus | - | WES | Sanger sequencing | AR | 5q31.2 (nonstop mutation in SIL1) |
Guo et al., 2020 [236] | Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report | Xingtai People's Hospital, Xingtai, Hebei, China | 1 Subject, 2 Parents | Chinese | Cases study | Dandy walker—cerebellar malformations | Persistent hypoglycemia, elongated palpebral fissures with eversion of the lower lateral eyelids and prominent ears | Communicating | WES | Sanger sequencing | De novo | 12q13.12 (c.12165del, p.E4056Sfs*10 in exon 39 of KMT2D) |
Jalali et al., 2008 [237] | Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity | Northwestern University Feinberg School of Medicine, Chicago, IL, USA | 19 Subjects | Vietnamese- American and Brazilian | Case series | Dandy walker malformation, occipital encephalocele | Prominent forehead, mildly downturned vermilion border of the upper lip, deep-set eyes and flat philtrum, minimal high frequency hearing loss | Communicating | TGS, cytogenetics | SNP genotyping, multipoint linkage analysis, G-banded karyotype analysis and FISH | AD | 2q36.1 (silent mutation of SGPP2; insertion/deletion 85Â bp upstream of ACSL3 exon 4) |
Liao et al., 2012 [238] | Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3 | Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, China | 4 Subjects | - | Case series | Dandy walker—cerebellar malformations | Ocular hypertelorism, cardiac anomalies, talipes valgus, syndactyly | - | WGS, cytogenetics | aCGH, FISH | De novo | 7p21.3 (de novo adjacent microdeletion/duplication) |
Linpeng et al., 2018 [239] | Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1 | Central South University, Changsha, Hunan, China | 3 Subjects, 1 Control | Chinese | Case study | Hypoplastic cerebellum and absent vermis | Bilateral postaxial polydactyly | - | WES, cytogenetics | Karyotype; microarray; CNV; FISH; Sanger sequencing | Maternal | 8q21 (4.9 Mb heterozygous deletion at 8q21.13-q21.3); Xp22.2 (c.T2488 + 2C, resulting in an abnormal skipping of exon 18 in OFD1) |
MacDonald, Holden 1985 [240] | Duplication 12q24––qter in an infant with Dandy-Walker syndrome | Queen's University, Kingston, Ont., Canada | 1 Subject | - | Case study | Dandy walker—cerebellar malformations |  | - | Cytogenetics | - | Paternal | 12q24 (duplication 12q24 to qter) |
Mademont-Soler et al., 2010 [241] | Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32) | Servei de BioquÃmica i Genètica Molecular, Hospital ClÃnic, Barcelona, Spain | 1 Subject, Controls used | - | Case study | Dandy walker—cerebellar malformations | Iris coloboma, profound hearing loss, and hyperlaxity of skin and joints | Obstructive | WGS, cytogenetics | G-banded chromosome analysis, aCGH, CNV analysis, FISH | De novo | Karyotype 46,XX,t(6;13)(q23;q32); 2.47 Mb deletion of band 13q32; 4 Mb deletion of 16q21 |
Matsukura et al., 2017 [242] | MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene | Saiseikai Toyama Hospital | 1 Subject | Japanese | Case study | Intellectual disability, dandy walker malformation | Glycosuria, developmental delay, renal cysts | - | TGS, cytogenetics | MLPA; direct sequencing, aCGH | De novo | 5.6 Mb deletion of 12q24.22–12q24.31 in HNF1A |
Mimaki et al., 2015 [243] | Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34 | Graduate School of Medicine, The University of Tokyo, Japan | 2 Subjects | - | Case series | Cerebellar hypoplasia, hypoplastic optic nerve | Upslanted palpebral fissures, hypertelorism, low-set malformed ears, a broad prominent nasal bridge, micrognathia, micropenis, hypospadias, bifid scrotum, and a low-level imperforate anus, ventral septal defect | Obstructive | Cytogenetics | G-banding, FISH, aCGH | De novo | 13q32.3 (ZIC2 and ZIC5) |
Shalata et al., 2019 [244] | Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood | Pediatrics and Medical Genetics and The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa, Israel | 4 Subjects, 2 Control | - | Case series | Hypotonia, dandy-walker malformation | Panhypopituitarism, hearing impairment, cataracts and congenital glaucoma, renal failure, buphthalmos, corneal ectasia, narrow ears canal, high arched palate and undescended testes | Obstructive | WES, cytogenetics | aCGH/SNP array, microarray analysis, Sanger Sequencing | - | 19q13.32 (c.T122A, p.L41Q in EXOC3L2) |
Sudha et al., 2001 [245] | De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus | Health Sciences Centre, University of Manitoba, Winnipeg, Canada | 1 Subject, 2 Parents | German-Swiss | Case study | Dandy walker—cerebellar malformations, macrocrania | Coarse facial features, developmental delay | Obstructive | Cytogenetics | Karyotyping, FISH analysis utilizing WCP | De novo | 46,XX,del(3)(q25.1q25.33) de novo |
Traversa et al., 2019 [246] | Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation | Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratory of Clinical Genomics, San Giovanni Rotondo (FG), Italy | 1 Subject, 2 Parents | Italian | Case study | Dandy walker—cerebellar malformations |  | Obstructive | WES | Sanger sequencing | - | 9q31.2 (c.G898A, p.G300R in FKTN) |
Yahyaoui et al., 2011 [48] | Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death | Clinical Laboratory, Carlos Haya University Hospital, Málaga, Spain | 1 Subject | Moroccan | Case study | Dandy-Walker malformation | Hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities | - | TGS | - | - | 1p32.3 (c.534_558del25bpinsT, p.L178_I186delinsF of CPT2) |
Zaki, et al., 2015 [247] | Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families | National Research Centre, Cairo, Egypt | 3 Subjects | Egyptian | Case series | Intellectual disability, Dandy-Walker malformation | Genitourinary abnormalities, hearing deficit | Obstructive | TGS, cytogenetics | aCGH, CNV analysis | AR | Genetic analysis unrevealing |
Zanni et al., 2011 [248] | FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion | Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, Rome | 1 Subject, 3 Controls | - | Case study | Hypotonia | Motor delay, gastroesophageal reflux and frequent gastrointestinal and respiratory infections, joint laxity, facial deformity | Obstructive | WGS, cytogenetics | aCGH, FISH analysis using a locus-specific probe | De novo | 8p21.3 (2.3 Mb deletion in 8p21.2-8p21.3; reduced levels of FGF17) |