New England Journal of Medicine · 2015 · 193 citations · 15 references
Life SciencesGeneticsMolecular GeneticsDevelopmental GeneticsHuman GeneticsMedical GeneticsFetal GrowthGenetic DisordersGenetic SyndromesGenetics Of Growth DisordersGrowth DisordersIntrauterine Growth RestrictionInsulin-like Growth Factor 1 DeficiencyInsulin-like Growth Factor DeficiencyInsulin-like Growth Factor-1Maternal ImprintingPaternal TransmissionPostnatal Growth RegulationPostnatal Growth RestrictionSilver-russell Syndrome
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. (Funded by Bundesministerium für Bildung und Forschung and the European Union.).
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Role of insulin-like growth factors in embryonic and postnatal growth
Julie C. Baker, Jeh-Ping Liu, Elizabeth J. Robertson et al. · Cell · 1993 · 2.4K citations