Journal
CURRENT OPINION IN PEDIATRICS
Volume 30, Issue 4, Pages 541-547Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOP.0000000000000653
Keywords
exome sequencing; genetic cause; genome-wide association study; short stature
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Funding
- Swedish Research Council [K2015-54X-22736-01-4, 2015-02227]
- Swedish Governmental Agency for Innovation Systems (Vinnova) [201401438]
- Marianne and Marcus Wallenberg Foundation
- Stockholm County Council
- Byggmastare Olle Engkvist Stiftelse
- Swedish Society of Medicine
- Novo Nordisk Foundation [NNF16OC0021508]
- Erik och Edith Fernstrom Foundation for Medical Research
- HKH Kronprinsessan Lovisas forening for barnasjukvard
- Sallskapet Barnavard
- Stiftelsen Frimurare Barnhuset i Stockholm
- Karolinska Institutet, Stockholm, Sweden
- Orebro University, Orebro, Sweden
- Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Novo Nordisk Foundation
- Swedish Research Council [2015-02227] Funding Source: Swedish Research Council
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Purpose of review Genome-wide approaches including genome-wide association studies as well as exome and genome sequencing represent powerful new approaches that have improved our ability to identify genetic causes of human disorders. The purpose of this review is to describe recent advances in the genetic causes of short stature. Recent findings In addition to SHOX deficiency which is one of the most common causes of isolated short stature, PAPPA2, ACAN, NPPC, NPR2, PTPN11 (and other rasopathies), FBN1, IHH and BMP2 have been identified in isolated growth disorders with or without other mild skeletal findings. In addition, novel genetic causes of syndromic short stature have been discovered, including pathogenic variants in BRCA1, DONSON, AMMECR1, NFIX, SLC25A24, and FN1. Summary Isolated growth disorders are often monogenic. Specific genetic causes typically have specific biochemical and/or phenotype characteristics which are diagnostically helpful. Identification of additional subjects with a specific genetic cause of short stature often leads to a broadening of the known clinical spectrum for that condition. The identification of novel genetic causes of short stature has provided important insights into the underlying molecular mechanisms of growth failure.
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