Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism

Maryam Razzaghy-Azar Saeedeh Saeedi Sepideh Borhan Dayani Samaneh Enayati Farzaneh Abbasi Somayyeh Hashemian Peyman EshraghiSiroos KarimdadiParisa Tajdini Rahim Vakili Mahsa M. Amoli Hanieh Yaghootkar

Published in: Journal of clinical research in pediatric endocrinology (2021)

This is the biggest genetic study of CHI in Iran. A high frequency of recessive forms of CHI, especially HADH mutations, in our study could be due to a high rate of consanguineous marriage. We recommend tNGS to screen for all the CHI genes.

Keyphrases

high frequency
genome wide
gene expression
high throughput
intellectual disability
autism spectrum disorder
transcription factor
bioinformatics analysis