Paternally Inherited IGF2 Mutation and Growth Restriction.
N Engl J Med
; 373(4): 349-56, 2015 Jul 23.
Article
in En
| MEDLINE
| ID: mdl-26154720
ABSTRACT
In humans, mutations in IGF1 or IGF1R cause intrauterine and postnatal growth restriction; however, data on mutations in IGF2, encoding insulin-like growth factor (IGF) II, are lacking. We report an IGF2 variant (c.191CâA, p.Ser64Ter) with evidence of pathogenicity in a multigenerational family with four members who have growth restriction. The phenotype affects only family members who have inherited the variant through paternal transmission, a finding that is consistent with the maternal imprinting status of IGF2. The severe growth restriction in affected family members suggests that IGF-II affects postnatal growth in addition to prenatal growth. Furthermore, the dysmorphic features of affected family members are consistent with a role of deficient IGF-II levels in the cause of the Silver-Russell syndrome. (Funded by Bundesministerium für Bildung und Forschung and the European Union.).
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Insulin-Like Growth Factor II
/
Codon, Nonsense
/
Silver-Russell Syndrome
/
Growth Disorders
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
N Engl J Med
Year:
2015
Document type:
Article