Syndromic Disorders Caused by Disturbed Human Imprinting
epimutation
genotype
phenotype
Imprinting disorders
Journal
Journal of clinical research in pediatric endocrinology
ISSN: 1308-5735
Titre abrégé: J Clin Res Pediatr Endocrinol
Pays: Turkey
ID NLM: 101519456
Informations de publication
Date de publication:
19 03 2020
19 03 2020
Historique:
entrez:
11
4
2019
pubmed:
11
4
2019
medline:
18
11
2020
Statut:
ppublish
Résumé
Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic imprinting, affecting prenatal and postnatal growth, neurocognitive development, metabolism and cancer predisposition. Aberrant expression of imprinted genes can be achieved through different mechanisms, classified into epigenetic - if not involving DNA sequence change - or genetic in the case of altered genomic sequence. Despite the underlying mechanism, the phenotype depends on the parental allele affected and opposite phenotypes may result depending on the involvement of the maternal or the paternal chromosome. Imprinting disorders are largely underdiagnosed because of the broad range of clinical signs, the overlap of presentation among different disorders, the presence of mild phenotypes, the mitigation of the phenotype with age and the limited availability of molecular techniques employed for diagnosis. This review briefly illustrates the currently known human imprinting disorders, highlighting endocrinological aspects of pediatric interest.
Identifiants
pubmed: 30968677
doi: 10.4274/jcrpe.galenos.2019.2018.0249
pmc: PMC7127890
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
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