Table 20 Genes of unknown function

Basel-Vanagaite et al., 2010 [393]

Familial hydrocephalus with normal cognition and distinctive radiological features

Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel

6 Subjects

-

Case series

Mega cisterna magna, midline cysts

Bilateral cleft lip and palate

Obstructive

TGS, cytogenetics

X-inactivation analysis, karyotyping

-

-

Bernstock et al., 2020 [394]

Complex Management of Hydrocephalus Secondary to Choroid Plexus Hyperplasia

Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts

1 Subject

-

Case study

Developmental delay, villous hyperplasia of choroid

Hydrocele, abdominal distension, short stature, developmental delay, low-set ears, hypertelorism, deep-set eyes, down slanting palpebral fissure, and a bulbous nose

Communicating

Cytogenetics

aCGH

De novo

tetraploidy of chromosome 9

Boxill et al., 2018 [395]

Choroid plexus hyperplasia and chromosome 9p gains

Viborg Regional Hospital, Viborg, Denmark

4 Subjects

-

Case series

Choroid plexus hyperplasia

Enophthalmia, hypertelorism, downslanting palpebral fissures, broad nasal bridge, bulbous nose, downturned corners of the mouth, anomalous ears, clinodactyly, single fifth finger crease, hydrocele

Communicating

Cytogenetics

Q-banding, G-banding FISH, a-CGH

De novo

trisomy 9p

Brock et al., 2012 [396]

Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: case report and review of literature

Dalhousie University, Halifax, Nova Scotia, Canada

1 Subject

Irish

Case study

Mild scoliosis, refractory siezures, global delay, hypotonia

Supernumerary nipples, transverse left palmar crease, square fingertips, bilateral 5th finger clinodactyly and shortened 4th and 5th metacarpals, overlapping toes bilaterally, skin pigmentary changes

Communicating

Cytogenetics

G-banding, FISH w/ WCP, aCGH

De novo

tetrasomy 5p

Brunetti-Pierri et al., 2008 [397]

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Baylor College of Medicine, Houston, TX, USA

36 Subjects, 50 Controls

-

Case series

Attention deficit hyperactivity disorder autism, anxiety/depression, antisocial behavior, aggression, hallucinations

Frontal bossing, deep-set eyes and bulbous nose, hypertelorism

Communicating

Cytogenetics

aCGH, FISH

AR

1q21.2 microdeletion/microduplication

Cai et al., 2021 [398]

Classifying and Evaluating Fetuses with Ventriculomegaly in Genetic Etiologic Studies

Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China

293 Subjects

-

Case series

Isolated hydrocephalus

Many—large study: cardiac, renal, facial agenesis, orthopaedic malformations, vascular malformations

-

WGS

SNP

De-novo, Maternal

Incidence of varying chromosomal abnormalities is higher in patients with non-isolated ventriculomegaly

Cambosu et al., 2013 [399]

Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature

University of Sassari, Sassari, Italy

1 Subject

-

Case study

Macrocephaly with dolichocephaly

Prominent foreheads, modest microphthalmia, flat nasal bridge, microstomia, retrognathia, small, dysmorphic ears with small lobe and short neck, and hypoplastic left kidney

-

Cytogenetics

Q-banding, FISH

-

Partial 1q trisomy

Capra et al., 2009 [400]

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome

UO Neurochirurgia, Istituto G. Gaslini, Genova, Italy

2 Subjects

Caucasian, European

Case series

Sagittal craniosynostosis, chiari I malformation,

Blepharophimosis, small low-set ears, hypoplastic philtrum, radioulnar synostosis, kidney malformation, and hypogenitalism

Obstructive

Cytogenetics, TGS

Karyotyping, aCGH, MLPA

-

-

Castro-Gago et al., 2001 [401]

Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction

Hospital Clínico Universitario, Santiago de Compostela, Spain

1 Subject

-

Case study

Severe encephalomalacia

Muscle body inclusions

-

-

-

-

-

Chen et al., 2011 [402]

Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly

Mackay Memorial Hospital, Taipei, Taiwan

1 Subject

-

Case study

Mental and motor retardation, hypotonia

Skeletal anomalies, clinodactyly of the fingers, hypertrichosis, congenital heart defects, craniofacial abnormalities such as microcephaly, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate, and a short neck

-

Cytogenetics

aCGH

De novo

17p13.1 microduplication

Chen et al., 2013 [403]

VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer

Mackay Memorial Hospital, Taipei, Taiwan

1 Subject

-

Case study

Isolated hydrocephalus

Bilateral arthrogryposis, right radial aplasia, a right club hand, aplasia of the right thumb, hypoplasia of the left thumb, scoliosis, and an imperforate anus

-

Cytogenetics, TGS

aCGH

-

-

Descipio et al., 2005 [404]

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome

The Children's Hospital of Philadelphia, and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania USA

6 Subjects, 12 Parents, Controls used

-

Case series

Dandy–Walker malformation intellectual disability

Ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, atrial septal defect, patent ductus arteriosus

Communicating, Obstructive

Cytogenetics, TGS

STS mapping, FISH, direct sequencing

-

-

Dubé et al., 2000 [405]

A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study

McGill University, Montreal Children's Hospital, Montreal, Quebec, Canada

1 Subject

French-Canadian

Case study

Global developmental delay, trigonocephaly

Oculocutaneous albinism, retinal coloboma, and megalocornea, prominent metopic suture, and cryptorchidism

-

Cytogenetics

FISH, karyotyping

-

-

Forcelini et al., 2006 [406]

Down syndrome with congenital hydrocephalus: case report

Rua Paissandu, Passo Fundo RS, Brazil

1 Subject

-

Case study

Isolated hydrocephalus

Upslanting)palpebral fissures; flat nasal bridge; open mouth; protruding tongue; transverse palmar creases; poor moro reflex; hyper flexibility; short stature; loose skin on nape of neck; flat facial profile; epicanthic folds; short broad hands; clinodactyly of fifth finger; gap between the first and second toes

-

Cytogenetics

-

-

Chr. 21 Trisomy

Garavelli et al., 2007 [407]

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case

S. Maria Nuova Hospital, Reggio Emilia, Italy

1 Subject

-

Case study

Hypotonia, dysmorphic facial features, hypoplasia of corpus callosum

Polydactyly

-

Cytogenetics

Karyotyping, FISH, SNP

De novo

-

Inui et al., 2001 [408]

A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules

Osaka University, Osaka, Japan

1 Subject

Japanese

Case study

Oculomotor apraxia, rigidity, spasticity, and hyperactive deep tendon reflexes

Corneal opacities, deformed toes, gastroesophageal reflux, and fibrous thickening of splenic and hepatic capsules

Communicating

WES

Cycle sequencing

De novo

1342G to C (D409H) homozygous mutation

Kariminejad et al., 2012 [409]

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report

Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran

1 Subject

-

Case study

Megalocephaly, polymicrogyria, Hypotonia

Polydactyly, developmental delay, bossing forehead, long philtrum, strabismus, and mild hypertelorism

-

Cytogenetics

aCGH

-

-

Lemire et al., 2000 [410]

Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities

Royal University Hospital and University of Saskatchewan, Saskatoon, Saskatchewan, Canada

2 Subjects

Canadian

Case series

Callosal dysgenesis, gray matter heterotopia, cortical dysplasia, cerebellar dysgenesis, intellectual disability

Bilateral sensorineural hearing loss, developmental delay

Obstructive

Cytogenetics, TGS

-

AR

-

Lowry et al., 2007 [411]

Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up

Alberta Children's Hospital & University of Calgary, Calgary, Alberta, Canada

1 Subject

-

Case study

Isolated hydrocephalus

Short stature, hyperlaxity of joints, hearing loss

Communicating

Cytogenetics, TGS

Karyotyping, FISH

AD

-

Matteucci et al., 2006 [412]

Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome

Department of Neurosciences, University of Pisa, Pisa, Italy

2 Subjects

Italian

Case series

Callosum agenesis, interhemispheric cyst, cerebral and cerebellar abnormalities

Sensorineural hearing loss, developmental delay

Communicating

TGS, Cytogenetics

G-banding, Q-banding

AR

-

Naritomi et al., 1988 [413]

16q21 is critical for 16q deletion syndrome

School of Medicine, University of the Ryukyus, Okinawa, Japan

1 Subject

-

Case study

Hypotonia

Bossed forehead, epicanthal folds, hypertelorism, a flat, broad nasal bridge, a short nose with a bulbous tip, and low-set posteriorly rotated, deformed ears, high-arched pallet, short neck, medial toe curvature

-

Cytogenetics

G-banding

De novo

Chr. 16q deletion

Østergaard et al., 2004 [414]

Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities

The John F. Kennedy Institute, Gl. Landevej 7, DK-2600 Glostrup, Denmark

2 Subjects

Pakistan

Case series

Callosal agenesis, colpocephaly

Bilateral sensorineural deafness

Obstructive

TGS

-

AR

-

Remes et al., 1992 [415]

Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero

University of Oulu, Finland

2 Subjects, 5 Family Members, Controls

-

Case series

Hypotonia, seizures

Aciduria, dystonic tetraplegia

Communicating

-

-

AR

-

Silan et al., 2003 [416]

A new mutation of the fukutin gene in a non-Japanese patient

Abant Izzet Baysal University Duzce Medical Faculty, Duzce, Turkey

1 Subject, 2 Parents, 1 Brother

Turkish

Case study

Hypotonia, polymicrogyria in several cortical segments and severe cortical disorganization

Congenital muscular dystrophy, bilateral buphthalmus, proptosis, and cataracts

Communicating

TGS

Restriction enzyme analysis, direct sequencing

AR

9q31.2 (1 bp insertion mutation in exon 5 of the fukutin gene)

Tohyama et al., 2007 [417]

Megalencephaly and polymicrogyria with polydactyly syndrome

Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran

1 Subject

Japanese

Case study

Megalencephaly, hypotonia, polymicrogyria, and thin corpus callosum

Bilateral postaxial polydactyly of upper and lower limbs, developmental delay

Communicating

Cytogenetics

FISH

-

-

Toren et al., 2020 [418]

Chromosomal Microarray Evaluation of Fetal Ventriculomegaly

Sheba Medical Center, Tel Hashomer, Israel

164 Subjects, 209 Controls

-

Case series

Severity and anatomical variability in ventriculomegaly

-

Cytogenetics

Karyotyping, chromosomal microarray

De Novo, Paternal

Incidence of varying chromosomal abnormalities is higher in patients with non-isolated ventriculomegaly and bilateral ventriculomegaly

Vincent et al., 1994 [419]

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene

Unité de Génétique Moléculaire Humaine (CNRS URA 1445), Institut Pasteur, Paris

1 Subject

-

Case study

Isolated hydrocephalus

Trapeze aplasia

-

Cytogenetics

Linkage analysis

De novo

8q12.2-q21.2 deletion

Wadt et al., 2012 [420]

Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletions

University Hospital of Copenhagen, Rigshospitalet, Denmark

2 Subjects, 16 Family Members

-

Case series

Hypotonia

Oromotor difficulties, hypermobility, high, flat forehead, bilateral ptoses,

Obstructive

Cytogenetics

Karyotyping, aCGH, MLPA

Variable expressivity

terminal deletion of chromosome 6q

Walker et al., 1996 [421]

Prenatal diagnosis of ring chromosome 6 in a fetus with hydrocephalus

Children's Hospital Research Foundation, Cincinnati, Ohio, USA

1 Subject

-

Case study

Microcephaly, seizures

Severe bilateral hearing loss, and global development delay

Obstructive

Cytogenetics

-

De novo

chromosome 6/monosomy 6 mosaicism

Wang et al., 2020 [422]

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly

West China Second University Hospital, Sichuan University, No. 20, Sect. 3, Renminnan Road, Chengdu, 610,041, Sichuan, China

548 Subjects

-

Case series

Agenesis/hypoplasia of the corpus callosum, Dandy–Walker malformation, migration abnormality, and holoprosencephaly

Renal, cardiac, and skeletal anomalies

-

WGS, cytogenetics

SNP, Karyotyping, CNV

De-novo, maternal, balanced translocation

Incidence of varying chromosomal abnormalities (13 types) is higher in patients with severe ventriculomegaly

Welch et al., 2003 [423]

Chudley-McCullough syndrome: expanded phenotype and review of the literature

Gallaudet University, Washington DC, USA

3 Subjects, 13 Family Members

Western European

Case series

Obstruction of the foramen of Monro, arachnoid cyst, partial agenesis of the corpus callosum, and abnormalities in the migration of cerebellar cells

Deafness

Obstructive

TES

Linkage analysis

AR

-

Yoshioka et al., 1994 [424]

Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy

Kobe General Hospital, Japan

48 Subjects

Japanese

Case series

Lissencephaly

Weakness, joint contractures, delayed motor development

Communicating

-

-

AR

-