Autosomal dominant PIK3R1 mutations cause SHORT syndrome

B K Chung; W T Gibson

doi:10.1111/cge.12262

Autosomal dominant PIK3R1 mutations cause SHORT syndrome

Clin Genet. 2014 Mar;85(3):228-9. doi: 10.1111/cge.12262. Epub 2013 Sep 23.

Authors

B K Chung¹, W T Gibson

Affiliation

¹ Department of Medical Genetics, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada; Laboratory for Obesity Genetics and Indirect Calorimetry, Child & Family Research Institute, Vancouver, BC, V5Z 4H4, Canada.

PMID: 24033310
DOI: 10.1111/cge.12262

Abstract

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Thauvin-Robinet et al. (2013) The American Journal of Human Genetics 93: 141-149 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signalling. Chudasama et al. (2013) The American Journal of Human Genetics 93: 150-157 Mutations in PIK3R1 cause SHORT syndrome. Dyment et al. (2013) The American Journal of Human Genetics 93: 158-166.

Publication types

Comment

MeSH terms

Class Ia Phosphatidylinositol 3-Kinase / genetics*
Diabetes Mellitus, Type 1 / immunology*
Female
Frameshift Mutation*
Growth Disorders / genetics*
HLA-DQ Antigens / immunology*
HLA-DR Antigens / immunology*
Humans
Hypercalcemia / genetics*
Insulin Resistance / genetics*
Male
Metabolic Diseases / genetics*
Nephrocalcinosis / genetics*
Phosphatidylinositol 3-Kinases / metabolism*

Substances

HLA-DQ Antigens
HLA-DR Antigens
Phosphatidylinositol 3-Kinases
Class Ia Phosphatidylinositol 3-Kinase