Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.

ABSTRACT:

Objective

Copy number variation (CNV) has been associated with idiopathic short stature, small for gestational age and Silver-Russell syndrome (SRS). It has not been extensively investigated in growth hormone insensitivity (GHI; short stature, IGF-1 deficiency and normal/high GH) or previously in IGF-1 insensitivity (short stature, high/normal GH and IGF-1).

Design and methods

Array comparative genomic hybridisation was performed with ~60 000 probe oligonucleotide array in GHI (n = 53) and IGF-1 insensitivity (n = 10) subjects. Published literature, mouse models, DECIPHER CNV tracks, growth associated GWAS loci and pathway enrichment analyses were used to identify key biological pathways/novel candidate growth genes within the CNV regions.

Results

Both cohorts were en

SUBMITTER: Cottrell E 

PROVIDER: S-EPMC7592635 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature