INPPL1 gene mutations in opsismodysplasia.
Fradet A, and Fitzgerald J. INPPL1 gene mutations in opsismodysplasia. J Hum Genet 2017; 62(2):135-140
Journal of human genetics
The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been well studied in the area of insulin resistance and obesity but has roles in cancer and other disorders. Recently, it was reported that mutations in INPPL1 cause opsismodysplasia, a rare, autosomal recessive severe skeletal dysplasia. This review focuses on the mutations associated with opsismodysplasia and explores the role of INPPL1/ SHIP2 in skeletal development.
Medical Subject Headings
Bone Development; Codon, Nonsense; Diphosphonates; Frameshift Mutation; Genetic Predisposition to Disease; Humans; Osteochondrodysplasias; Phosphatidylinositol Phosphates; Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases; Phosphorylation; Signal Transduction