Congenital hydrocephalus in clinical practice: A genetic diagnostic approach

Autor: Merryn V. E. Macville, F. H. M. van Lint, P. C. Krapels, Antonio W. D. Gavilanes, J. W. Weber, John J.M. Engelen, Alexander P.A. Stegmann, Suzanna G.M. Frints, Ctrm Schrander-Stumpel, Christine Willekes, Yvonne J. Vos, Jaap A. Bakker, Judith M.A. Verhagen, C. E. M. De Die-Smulders
Přispěvatelé: Klinische Genetica, Obstetrie & Gynaecologie, Klinische Neurowetenschappen, Kindergeneeskunde, Genetica & Celbiologie, RS: MHeNs School for Mental Health and Neuroscience, RS: GROW - School for Oncology and Reproduction, Clinical Genetics, Cardiothoracic Surgery
Rok vydání: 2011
Předmět:
Male
Candidate gene
Pediatrics
Etiology
Gene Dosage
Chromosome Disorders
CHILDREN
Severity of Illness Index
Congenital hydrocephalus
MALFORMATION
Congenital
SWEDEN
Epidemiology
EPIDEMIOLOGY
Connective Tissue Diseases
MUTATION
Genetics (clinical)
Netherlands
ORIGIN
Walker-Warburg Syndrome
INFANTILE HYDROCEPHALUS
General Medicine
Phenotype
Child
Preschool
Medical genetics
Female
Hydrocephalus
congenital
hereditary
and neonatal diseases and abnormalities
medicine.medical_specialty
Contracture
DNA Copy Number Variations
Neural Cell Adhesion Molecule L1
Blepharophimosis
Polymorphism
Single Nucleotide
CLASSIFICATION
Genetic
CILIA
VACTERL
Genetics
medicine
Humans
Abnormalities
Multiple
L1 syndrome
Retrospective Studies
Chromosome Aberrations
business.industry
Infant
medicine.disease
nervous system diseases
Hemifacial microsomia
Arachnodactyly
Karyotyping
L1CAM
business
Zdroj: European Journal of Medical Genetics, 54(6), E542-E547. Elsevier
European journal of medical genetics, 54(6), E542-E547. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 54(6), e542-e547. Elsevier Masson
ISSN: 1769-7212
Popis: Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus.A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of Clinical Genetics between 1985 and 2010 by perinatologists, (child) neurologists or pediatricians. Patients with hydrocephalus secondary to other pathology were excluded from this survey. We classified patients with primary congenital hydrocephalus into two main groups: non-syndromic hydrocephalus (NSH) and syndromic hydrocephalus (SH). Seventy-five individuals met the inclusion criteria, comprising 36% (27/75) NSH and 64% (48/75) SH. In 11% (8/75) hydrocephalus was familial. The cause of hydrocephalus was unknown in 81% (61/75), including all patients with NSH. The male-female ratio in this subgroup was 2.6:1, indicating an X-linked factor other than the L1CAM gene. In the group of SH patients, 29% (14/48) had a known cause of hydrocephalus including chromosomal abnormalities, L1 syndrome, Marden-Walker syndrome, Walker-Warburg syndrome and hemifacial microsomia.We performed this survey in order to evaluate current knowledge on the genetic etiology of primary congenital hydrocephalus and to identify new candidate genes or regulatory pathways for congenital hydrocephalus. Recommendations were made concerning the evaluation and genetic workup of patients with primary congenital hydrocephalus. We conclude that further molecular and functional analysis is needed to identify new genetic forms of congenital hydrocephalus. (C) 2011 Elsevier Masson SAS. All rights reserved.
Databáze: OpenAIRE
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