Condition: SHORT syndrome


rs1561299903 in PIK3R1 gene and SHORT syndrome PMID 23810382 2013 Mutations in PIK3R1 cause SHORT syndrome.

PMID 23810378 2013 PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

PMID 24886349 2014 Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

PMID 23810379 2013 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.

PMID 23980586 2014 These two patients not only provide additional evidence that PIK3R1 mutations cause SHORT syndrome, but also broaden the clinical spectrum of this syndrome and further confirm that the amino acid exchange c.1945C>T; p.Arg649Trp is a hotspot mutation in this gene.

PMID 26974159 2016 PI3-kinase mutation linked to insulin and growth factor resistance in vivo.

PMID 27766312 2016 Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 23810379 2013 Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome).

PMID 28632845 2017 We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation.

PMID 26529633 2016 De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.

PMID 22351933 2012 Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

PMID 25133428 2014 A human immunodeficiency caused by mutations in the PIK3R1 gene.

PMID 25488983 2014 Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.