oru.sePublikationer
Ändra sökning
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
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 (Engelska)Ingår i: Current opinion in pediatrics, ISSN 1040-8703, E-ISSN 1531-698X, Vol. 30, nr 4, s. 541-547Artikel, forskningsöversikt (Refereegranskat) 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.

Ort, förlag, år, upplaga, sidor
Lippincott Williams & Wilkins, 2018. Vol. 30, nr 4, s. 541-547
Nyckelord [en]
exome sequencing, genetic cause, genome-wide association study, short stature
Nationell ämneskategori
Pediatrik
Identifikatorer
URN: urn:nbn:se:oru:diva-68775DOI: 10.1097/MOP.0000000000000653ISI: 000442247700016PubMedID: 29787394OAI: oai:DiVA.org:oru-68775DiVA, id: diva2:1245936
Forskningsfinansiär
Vetenskapsrådet, K2015-54X-22736-01-4 2015-02227VINNOVA, 201401438Marianne och Marcus Wallenbergs StiftelseStockholms läns landstingSvenska läkaresällskapetNovo Nordisk, NNF16OC0021508
Anmärkning

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) 

Tillgänglig från: 2018-09-06 Skapad: 2018-09-06 Senast uppdaterad: 2018-09-06Bibliografiskt granskad

Open Access i DiVA

Fulltext saknas i DiVA

Övriga länkar

Förlagets fulltextPubMed

Personposter BETA

Nilsson, Ola

Sök vidare i DiVA

Av författaren/redaktören
Nilsson, Ola
Av organisationen
Institutionen för medicinska vetenskaper
I samma tidskrift
Current opinion in pediatrics
Pediatrik

Sök vidare utanför DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetricpoäng

doi
pubmed
urn-nbn
Totalt: 62 träffar
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf