> top > docs > OMIM_backup@xiajingbo:171833-1-PIK3R1

OMIM_backup@xiajingbo:171833-1-PIK3R1 JSONTXT

In a 7-year-old boy with SHORT syndrome (269880), Thauvin-Robinet et al. (2013) identified heterozygosity for a de novo 3-bp deletion (c.1615_1617delATT) at chr5:67,591,018 (GRCh37) in the PIK3R1 gene, resulting in deletion of ile539 in the inter-Src homology 2 (iSH2) domain. The mutation was not present in his unaffected parents and was not found in approximately 6,500 exomes in the NHLBI Exome Variant Server, dbSNP137, or the 1000 Genomes Project. Functional studies on patient fibroblasts revealed a 70 to 90% reduction in the effect of insulin on AKT (see 164730) activation, glycogen synthesis, and glucose uptake, indicating severe insulin resistance for both proximal and distal PI3K-dependent signaling.

projects that include this document

There is no project