Journal article

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Slavé Petrovski, Roberta E Parrott, Joseph L Roberts, Hongxiang Huang, Jialong Yang, Balachandra Gorentla, Talal Mousallem, Endi Wang, Martin Armstrong, Duncan McHale, Nancie J MacIver, David B Goldstein, Xiao-Ping Zhong, Rebecca H Buckley

J Clin Immunol | Published : 2016


The purpose of this research was to use next generation sequencing to identify mutations in patients with primary immunodeficiency diseases whose pathogenic gene mutations had not been identified. Remarkably, four unrelated patients were found by next generation sequencing to have the same heterozygous mutation in an essential donor splice site of PIK3R1 (NM_181523.2:c.1425 + 1G > A) found in three prior reports. All four had the Hyper IgM syndrome, lymphadenopathy and short stature, and one also had SHORT syndrome. They were investigated with in vitro immune studies, RT-PCR, and immunoblotting studies of the mutation's effect on mTOR pathway signaling. All patients had very low percentages ..

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University of Melbourne Researchers