Paternally Inherited IGF2 Mutation and Growth Restriction.
N Engl J Med
; 373(4): 349-56, 2015 Jul 23.
Article
en 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.).
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Factor II del Crecimiento Similar a la Insulina
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Codón sin Sentido
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Síndrome de Silver-Russell
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Trastornos del Crecimiento
Límite:
Female
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Humans
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Male
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Newborn
Idioma:
En
Revista:
N Engl J Med
Año:
2015
Tipo del documento:
Article