Advances in Skeletal Dysplasia Genetics

被引：53

作者：

Geister, Krista A. ^{[1
]}

Camper, Sally A. ^{[1
,2
]}

机构：

[1] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

[2] Univ Michigan, Grad Program Cell & Mol Biol, Ann Arbor, MI 48109 USA

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 16 | 2015年 / 16卷

关键词：

growth insufficiency; mosaicism; imprinting; primordial dwarfism; ciliopathy; epigenetics; FIBROBLAST-GROWTH-FACTOR; SEQUENCING IDENTIFIES MUTATIONS; ORIGIN RECOGNITION COMPLEX; PLANAR CELL POLARITY; NATRIURETIC PEPTIDE; OSTEOGENESIS IMPERFECTA; PRIMORDIAL DWARFISM; FACTOR RECEPTOR-3; SHORT STATURE; N-MYC;

D O I：

10.1146/annurev-genom-090314-045904

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic Skeletal Disorders, genetic causes of 56 skeletal disorders have been uncovered. This remarkable rate of discovery is largely due to the expanded use of high-throughput genomic technologies. In this review, we discuss these recent discoveries and our understanding of the molecular mechanisms behind these skeletal dysplasia phenotypes. We also cover potential therapies, unusual genetic mechanisms, and novel skeletal syndromes both with and without known genetic causes. The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk prediction, and therapeutic design.

引用

页码：199 / 227

页数：29

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