期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 373, 期 4, 页码 349-356出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa1415227
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资金
- Bundesministerium fur Bildung und Forschung
- European Union
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.191C -> A, 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.
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