Increasing knowledge in
Abnormalities, Multiple
/ epidemiology
Adolescent
Child
Dwarfism
/ genetics
Female
Fetal Development
/ genetics
Fetal Growth Retardation
/ epidemiology
Growth Disorders
/ epidemiology
Heterozygote
Homozygote
Humans
Infant, Small for Gestational Age
/ growth & development
Insulin-Like Growth Factor I
/ genetics
Insulin-Like Growth Factor II
/ genetics
Male
Microcephaly
/ genetics
Mutation, Missense
/ genetics
Pedigree
Polymorphism, Single Nucleotide
/ genetics
Receptor, IGF Type 1
/ genetics
Receptors, Somatomedin
/ genetics
IGF-I
IGF1R
fetal growth restriction
homozygous variant
small for gestational age
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
29
05
2019
revised:
06
08
2019
accepted:
24
08
2019
pubmed:
7
10
2019
medline:
27
2
2021
entrez:
7
10
2019
Statut:
ppublish
Résumé
The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients carrying an DNA was tested for either deletions or single nucleotide variant (SNV) and the phosphorylation of downstream pathways studied after stimulation with IGF-I by western blot analysis of fibroblast of nine patients. We detected 21 We report eight new pathogenic variants of
Sections du résumé
BACKGROUND
The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients carrying an
METHODS
DNA was tested for either deletions or single nucleotide variant (SNV) and the phosphorylation of downstream pathways studied after stimulation with IGF-I by western blot analysis of fibroblast of nine patients.
RESULTS
We detected 21
CONCLUSION
We report eight new pathogenic variants of
Identifiants
pubmed: 31586944
pii: jmedgenet-2019-106328
doi: 10.1136/jmedgenet-2019-106328
doi:
Substances chimiques
IGF1R protein, human
0
IGF2 protein, human
0
Receptors, Somatomedin
0
Insulin-Like Growth Factor I
67763-96-6
Insulin-Like Growth Factor II
67763-97-7
Receptor, IGF Type 1
EC 2.7.10.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
160-168Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.