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New developments in the genetic diagnosis of short stature
Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda Maryland, USA.
Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda Maryland, USA.
Örebro universitet, Institutionen för medicinska vetenskaper. Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.ORCID-id: 0000-0002-9986-8138
2018 (engelsk)Inngår i: Current opinion in pediatrics, ISSN 1040-8703, E-ISSN 1531-698X, Vol. 30, nr 4, s. 541-547Artikkel, forskningsoversikt (Fagfellevurdert) Published
Abstract [en]

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.

sted, utgiver, år, opplag, sider
Lippincott Williams & Wilkins, 2018. Vol. 30, nr 4, s. 541-547
Emneord [en]
exome sequencing, genetic cause, genome-wide association study, short stature
HSV kategori
Identifikatorer
URN: urn:nbn:se:oru:diva-68775DOI: 10.1097/MOP.0000000000000653ISI: 000442247700016PubMedID: 29787394OAI: oai:DiVA.org:oru-68775DiVA, id: diva2:1245936
Forskningsfinansiär
Swedish Research Council, K2015-54X-22736-01-4 2015-02227VINNOVA, 201401438Marianne and Marcus Wallenberg FoundationStockholm County CouncilSwedish Society of MedicineNovo Nordisk, NNF16OC0021508
Merknad

Funding Agencies:

Byggmästare Olle Engkvist Stiftelse

Erik och Edith Fernstrom Foundation for Medical Research  

HKH Kronprinsessan Lovisas förening for barnasjukvård  

Sällskapet Barnavård  

Stiftelsen Frimurare Barnhuset i Stockholm  

Karolinska Institutet, Stockholm, Sweden  

Örebro University, Örebro, Sweden  

Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 

Tilgjengelig fra: 2018-09-06 Laget: 2018-09-06 Sist oppdatert: 2018-09-06bibliografisk kontrollert

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