Paternally Inherited IGF2 Mutation and Growth Restriction

被引：155

作者：

Begemann, Matthias ^{[1
]}

Zirn, Birgit ^{[2
,3
]}

Santen, Gijs ^{[7
,8
]}

Wirthgen, Elisa ^{[4
]}

Soellner, Lukas ^{[1
]}

Buettel, Hans-Martin ^{[5
]}

Schweizer, Roland ^{[6
]}

van Workum, Wilbert ^{[8
,9
]}

Binder, Gerhard ^{[6
]}

Eggermann, Thomas ^{[1
]}

机构：

[1] Rhein Westfal TH Aachen, Univ Hosp, Inst Human Genet, D-52074 Aachen, Germany

[2] Univ Med, Dept Pediat & Neuropediat, Gottingen, Germany

[3] Genetikum, Genet Counseling & Diagnost, Stuttgart, Germany

[4] Ligandis, Gulzow Pruzen, Germany

[5] SLK Kliniken, Dept Pediat & Neuropediat, Heilbronn, Germany

[6] Univ Tubingen, Univ Childrens Hosp, Pediat Endocrinol Sect, Tubingen, Germany

[7] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands

[8] GenomeScan, Leiden, Netherlands

[9] ServiceXS, Leiden, Netherlands

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2015年 / 373卷 / 04期

关键词：

SILVER-RUSSELL-SYNDROME; FACTOR-II GENE; POSTNATAL-GROWTH; DEFICIENCY; FETAL;

D O I：

10.1056/NEJMoa1415227

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：349 / 356

页数：8

共 24 条

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