Table 11 Neurogenesis

Antwi et al., 2018 [340]

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9

Yale University, New Haven, CT, United States

1 Subject

-

Case study

Hypoplastic C6 vertebral body, exaggerated cervical lordosis, and exaggerated thoracic kyphosis

Tracheobronchomalacia, cleft palate, retrognathia, hypertelorism, hypoplastic mandible

Communicating

WES, cytogenetics

Karyotyping, FISH, aCGH

De novo

17q24.3 (SOX9)

Avitan-Hersh et al., 2011 [341]

A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease

Technion Institute of Technology, Haifa, Israel

1 Subject, 2 Parents

Arab

Case study

Isolated hydrocephalus

Pulmonic stenosis, skin hyperpigmentation, hepatomegaly, splenomegaly, dilatation of the right renal pelvis

Communicating

TES

-

AR

10q22.1 (SLC29A3 gene, encodes human equilibrative nucleoside transporter hENT3)

Cauley et al., 2019 [342]

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

The George Washington University School of Medicine and Health Sciences, Washington, DC, USA

2 Subjects, 2 Siblings, 2 Parents, Controls used

Sudanese

Case series

Psychomotor delay, intellectual disability, seizures, severe brain malformations, spasticity, hyperreflexia

Ptosis, unilateral ophthalmoplegia, and bilateral vertical ophthalmoplegia, muscle wasting

-

WES

Variant analysis, Sanger sequencing

AR

16q21 (ADGRG1)

And 16p12.1 (KIAA0556)

Christofolini et al., 2006 [343]

Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis

Departamento de Morfologia, Disciplina de Genética, Universidade Federal de São Paulo, São Paulo, Brazil

1 Subject, 2 Parents

-

Case study

Corpus callosum agenesis

Imperforate anus with anocutaneous fistula, penoscrotal transposition, and digital reduction defects, short palpebral fissures, telecanthus, epicanthic folds, short nose with depressed nasal bridge and anteverted nostrils, posteriorly rotated ears, short neck

Obstructive

Cytogenetics

G-banding

De novo

13q deletion

Doherty et al., 2012 [344]

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

University of Washington, Seattle Children's Hospital, USA

12 Subjects, Controls used

Mennonite, European American, Dutch

Case series

Bilateral sensorineural deafness, corpus callosum agenesis, arachnoid cysts, posterior agenesis of the corpus callosum, frontal polymicrogyria, frontal heterotopia, cerebellar dysplasia

Down slanting palpebral fissures and low-set, posteriorly rotated ears

Communicating, Obstructive

Genotyping, WES

SNP, sanger sequencing

AR

1p13.3 (G protein-signaling modulator 2 gene, GPSM2)

Forrester et al., 2002 [345]

Kousseff syndrome caused by deletion of chromosome 22q11-13

Southern Illinois University School of Medicine, Springfield, Illinois, USA

3 Subjects, 2 Controls

-

Case series

Intellectual disability

Lumbosacral myelomeningocele, cleft palate, and dysmorphic features consisting of low-set and posteriorly rotated ears, retrognathia, and clinodactyly of the fifth toes, cardiac anomalies

Obstructive

Genotyping, cytogenetics

FISH, karyotyping, microsatellite marker assay

AR

22q11.2-microdeletion

Furey et al., 2018 [8]

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Yale University School of Medicine, New Haven, CT 06510, USA

177 subjects, 1,789 controls

-

Case series

Isolated hydrocephalus

Communicating, Obstructive

WES

Direct sequencing

De novo

3p22.3 (TRIM71)

3p21.31 (SMARCC1

9q22.32 (PTCH1)

Grosso et al., 2002 [346]

De novo complete trisomy 5p: clinical and neuroradiological findings

University of Siena, Siena, Italy

1 Subject

-

Case study

Isolated hydrocephalus

Low-set, posteriorly rotated ears with reduced cartilage, up slanted palpebral fissures, epicanthus, hypertelorism, a wide and depressed nasal root, a short nose with anteverted nostrils, a long philtrum, retrognathia, an ogival palate, a short neck, abnormal palmar creases, and a bell-shaped trunk

-

Cytogenetics

FISH w/ WCP

De novo

trisomy 5p

Jacquemin et al., 2020 [347]

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

Université Libre de Bruxelles, 1070 Brussels, Belgium

3 Subjects, 1 Control

Pakistan

Case series

Isolated hydrocephalus

Limb contractures, club feet

-

WES

Variant analysis

AR

2p25.1 (homozygous variant of KIDINS220)

Kline-Fath et al., 2018 [348]

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus

Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., Cincinnati, OH, USA

1 Subject

-

Case study

Thin cerebral cortex, cerebellum, brainstem, and spinal cord

Arthrogryposis, proliferative glomeruloid vasculopathy

Obstructive

WES

-

AR

14q24.3 (FLVCR2 gene)

Koenigstein et al., 2016 [349]

Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation

Justus-Liebig-University, Giessen, Germany

2 Subjects

Turkish

Case series

Callosal agenesis, interhemispheric cyst, frontal polymicrogyria

Sensorineural deafness

Communicating

-

-

AR

1p13.3 (c.C1093T; p.R365X in

GPSM2)

Lahiry et al., 2009 [350]

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems

Robarts Research Institute, London, Ontario N6A 5K8, Canada

6 Subjects, 3112 Controls

Amish

Case series

Cerebral anomalies

Facial dysmorphisms, eye anomalies, skeletal anomalies, pulmonary/GI/GU dysplasia

Communicating

Genotyping, TGS

SNP, autozygosity mapping, direct sequencing

AR

6p12.1 (ICK p.R272Q mutation)

Li et al., 2015 [351]

Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3 → qter)

The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, People's Republic of China

1 Subject

-

Case study

Isolated hydrocephalus

Lumbar hemivertebrae

-

Cytogenetics

CNV, aCGH, Karyotyping, FISH

-

deletion in chromosome

region 6q25.3 → qter

Maclean et al., 2004 (258)

Kousseff syndrome: a causally heterogeneous disorder

Sydney Children's Hospital, Sydney, Australia

2 Subjects

Indonesian

Case series

Myelomeningocele, callosal hypoplasia, intellectual delay

Posteriorly rotated ears, a large nose, a smooth featureless philtrum, hypertrichosis and restricted ankle dorsiflexion, tetralogy of fallot

Obstructive

TES

Cycle sequencing

AR

22q11.2-microdeletion

Maclean et al., 2005 [352]

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

The Children's Hospital at Westmead, Sydney, New South Wales, Australia

1 Subject

Caucasian

Case study

Cerebellar hypoplasia, a deficient inferior vermis, hypoplasia of the pons, medulla, and posterior corpus callosum, and absent septum pellucidum

Axenfeld-rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance

Communicating

Cytogenetics, genotyping

Karyotyping, FISH, microsatellite marker assay,

De novo

6p25 (deletion of the FOXC1/FOXF2/FOXQ1 forkhead gene cluster)

Mero et al., 2017 [353]

Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures

Oslo University Hospital, Oslo, Norway

4 Subjects, 2 Parents

-

Case series

Callosum agenesis, small cerebellum

Limb contractures

Communicating

WES

Sanger sequencing, autozygosity mapping,

AR

2p25.1 (homozygous frameshift variant in exon 24 in KIDINS220)

Pappa et al., 2017 [354]

Exome analysis in an Estonian multiplex family with neural tube defects-a case report

University of Tartu, Riia 23b, 51,010, Tartu, Estonia

3 Subjects, 2 Parents

Estonian

Case series

Spina bifida, aqueductal stenosis, intellectual delay

Gait and motor abnormalities

Obstructive

WES

Variant analysis

Maternal

21q22.3 (CBS), 5p15.31 (MTRR), 1p36.22 (MTHFR), 19q13.33 (IL4I1), 8q24.3 (SCRIB1), 6p21.1 (PTK7), 7q21.13 (FZD1), 1q23.2 (VANGL2), 17p13.1 (DVL2), 18q21.1 (TCEB3B), 2q35 (PLCD4), 10q11.21 (RASSF4), and 6p25.1 (FARS2)

Powis et al., 2018 [355]

Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn with Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome

Ambry Genetics, Aliso Viejo, California, USA

1 Subject, 2 Parents

Caucasian

Case study

Posterior fossa cyst, dandy walker malformation, seizures

Optic nerve abnormalities, abnormal renal function

-

Diagnostic exome sequencing

-

De novo

16q24.3 (TUBB3)

Rai et al., 2015 [356]

Cervicomedullary spinal stenosis and ventriculomegaly in a child with developmental delay due to chromosome 16p12.1 microdeletion syndrome

Midland Regional Hospital, Mullingar Westmeath, Ireland

1 Subject

-

Case study

Macrocephaly

Significant delay in gross motor skills

-

Cytogenetics

aCGH

-

Chr. 16p12.2 deletion

Su et al., 2021 [357]

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement

Guangxi Health Commission Key Laboratory of Precise Diagnosis and Treatment of Genetic Diseases, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China

2 Subjects

Chinese

Case series

Cerebellar hypoplasia

Cleft lip and palate, hydrops fetalis, hepatomegaly

HYC3

WES

Sanger sequencing, variant analysis

AR

17p13.3 (WDR81)

Yüksel et al., 2019 [358]

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

Centogene AG, Rostock, Germany

1 Subject, 1 Control

-

Case study

Isolated hydrocephalus

Atrial and ventricular septal defects, cleft lip and palate, and a renal phenotype including multi-cystic dysplasia

Obstructive

WES

Variant analysis, sanger sequencing

De novo

10q22.3 (DLG5)