title: INPPL1 gene mutations in opsismodysplasia.
abstract: 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.
authors.affiliation: Department of Orthopedic Surgery, Bone and Joint Center, Henry Ford Hospital System, Detroit, MI, USA.
authors.forename: Anaïs
authors.initials: A
authors.lastname: Fradet
authors.affiliation: Department of Orthopedic Surgery, Bone and Joint Center, Henry Ford Hospital System, Detroit, MI, USA.
authors.forename: Jamie
authors.initials: J
authors.lastname: Fitzgerald
mesh_terms: D001846:Bone Development / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D004164:Diphosphonates / Q000627:therapeutic use; D016368:Frameshift Mutation / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D010009:Osteochondrodysplasias / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D018129:Phosphatidylinositol Phosphates / Q000378:metabolism*; D000072183:Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases / Q000235:genetics*; D010766:Phosphorylation / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D004164:Diphosphonates; D018129:Phosphatidylinositol Phosphates; C060974:phosphatidylinositol 3,4,5-triphosphate; C098706:INPPL1 protein, human; D000072183:Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases