IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of -Function CDKN1C Mutations

被引：8

作者：

Cabrera-Salcedo, Catalina ^{[1
]}

Kumar, Priya ^{[1
]}

Hwa, Vivian ^{[1
]}

Dauber, Andrew ^{[1
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Div Endocrinol, Cincinnati Ctr Growth Disorders, Cincinnati, OH 45229 USA

来源：

PEDIATRIC ENDOCRINOLOGY REVIEWS PER | 2017年 / 14卷 / 03期

关键词：

IMAGe syndrome; CDKN1C; Adrenal hypoplasia; Intrauterine growth restriction; BECKWITH-WIEDEMANN SYNDROME; DEPENDENT KINASE INHIBITOR; PCNA-BINDING DOMAIN; ADRENAL HYPOPLASIA; ASSOCIATION; P57(KIP2); GROWTH; INHERITANCE; HYPERINSULINISM; INTRAUTERINE;

D O I：

10.17458/per.vol14.2017.SKHD.imageandrelatedundergrowth

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

CDKN1C is a cyclin-dependent kinase Inhibitor and negative regulator of cellular proliferation. Recently, gain-of-function mutations in the PCNA domain of CDKNIC have been reported as the genetic basis of various growth-retarded syndromes including IMAGe syndrome, Russell Silver syndrome as well as a novel undergrowth syndrome that additionally exhibited early adulthood onset diabetes. This review summarizes the key clinical features and the molecular advances that have contributed to our understanding of this complex phenotypic spectrum.

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收藏

页码：289 / 297

页数：9

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