hrp0094p2-286 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Single nucleotide variations associated with short stature in Baka Pygmies as identified by Whole Exome Sequence (WES)

Bozzola Mauro , Zoccolillo Matteo , Lazarevic Dejan , Cittaro Davide , Manai Federico , Moia Claudia , Wit Jan M , Comincini Sergio ,

Introduction: Human growth is a multifactorial process involving genetic, hormonal, nutritional and environmental factors. Genome-wide association studies (GWAS) have shown that >400 genes are associated with adult height. African Baka Pygmies represent an isolated and well-confined small population with short stature of unknown etiology. In previous studies we reported an 8-fold reduced GH receptor gene expression and reduced serum levels of IGF-I and GHB...