Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.
Adult
Child
Chromogranins
/ genetics
Chromosomes, Human, Pair 20
/ genetics
Diagnosis, Differential
Female
GTP-Binding Protein alpha Subunits, Gs
/ genetics
Genomic Imprinting
Humans
Infant
Male
Maternal Age
Maternal Inheritance
Pathology, Molecular
Pedigree
Phenotype
Silver-Russell Syndrome
/ diagnosis
Uniparental Disomy
/ genetics
GNAS DMR
Mulchandani–Bhoj–Conlin syndrome
Silver Russell
UPD(20)mat
diagnostic flowchart
epigenetic deregulation
growth disorder
rare mechanisms
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
17 04 2021
17 04 2021
Historique:
received:
15
03
2021
revised:
02
04
2021
accepted:
12
04
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
13
8
2021
Statut:
epublish
Résumé
Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (Netchine-Harbison clinical scoring system (NH-CSS)). The molecular mechanisms consist in (epi)genetic deregulations at multiple loci: the loss of methylation (LOM) at the paternal
Identifiants
pubmed: 33920573
pii: genes12040588
doi: 10.3390/genes12040588
pmc: PMC8073552
pii:
doi:
Substances chimiques
Chromogranins
0
GNAS protein, human
EC 3.6.1.-
GTP-Binding Protein alpha Subunits, Gs
EC 3.6.5.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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