The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy

This study reinforces previous data on RREB1 haploinsufficiency as the driver of a new Noonan-like RASopathy variant, which includes intellectual disability, delayed motor skills, short stature, short neck, and distinctive facial dysmorphisms as key clinical indicators. These findings shed light on this RREB1-related syndrome and underscore the necessity for further investigation into the functional consequences of RREB1 mutations.PMID:38332451 | DOI:10.1111/cge.14496

Source: Clinical Genetics - February 9, 2024 Category: Genetics & Stem Cells Authors: Olga Shatokhina Fatima Bostanova Maria Bulakh Anastasia Beresneva Oxana Ryzhkova Source Type: research