INPPL1 Gene Mutations in Opsismodysplasia

Overview

Journal J Hum Genet

Specialty Genetics

Date 2016 Oct 7

PMID 27708270

Citations 6

Authors

Anais Fradet

Jamie Fitzgerald

Affiliations

Soon will be listed here.

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.

Citing Articles

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.

Rossignol F, Lamari F, Mitchell G J Inherit Metab Dis. 2025; 48(2):e70008.

PMID: 40024625 PMC: 11872349. DOI: 10.1002/jimd.70008.

A Case of Opsismodysplasia with a Novel Variant.

Dasar T, Aypar E, Utine G, Simsek-Kiper P Mol Syndromol. 2025; 16(1):49-54.

PMID: 39911177 PMC: 11793891. DOI: 10.1159/000540189.

Alteration of gene expression and protein solubility of the PI 5-phosphatase SHIP2 are correlated with Alzheimer's disease pathology progression.

Ando K, Kucukali F, Doeraene E, Nagaraj S, Antonelli E, Thazin Htut M Acta Neuropathol. 2024; 147(1):94.

PMID: 38833073 PMC: 11150309. DOI: 10.1007/s00401-024-02745-7.

Genome-wide CRISPR/Cas9 screens reveal shared and cell-specific mechanisms of resistance to SHP2 inhibition.

Wei W, Geer M, Guo X, Dolgalev I, Sanjana N, Neel B J Exp Med. 2023; 220(5).

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Wu H, Wang Y, Chen X, Yao Y, Zhao W, Fang L Oxid Med Cell Longev. 2022; 2022:8956636.

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