Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.

ABSTRACT:

Background

The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), a widely expressed cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal growth restriction or overgrowth.

Methods

Whole exome sequence (WES), chromosomal microarray, and targeted IGF1R gene analyses were performed on 3 unrelated children who share features of small for gestational age, short stature, and elevated serum IGF-I, but otherwise had clinical heterogeneity. Fluorescence-activated cell sorting (FACS) analysis of cell-surface IGF1R was performed on live primary cells derived from the patients.

Results

Two novel IGF1R CNV and a heterozygous IGF1R nonsense variant were identified in the 3 patients. One CNV (4.492 Mb) wa

SUBMITTER: Ocaranza P 

PROVIDER: S-EPMC5509495 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature