A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.

ABSTRACT:

Background

Gabriele-de Vries syndrome (GADEVS), also known as YY1 haploinsufficiency syndrome, is a very rare autosomal dominant neurodevelopmental disorder (NDD) due to YY1 mutation characterized by mild-to-profound developmental delay (DD)/intellectual disability (ID), a wide spectrum of functional and morphologic abnormalities, and intrauterine growth restriction or low birth weight and feeding difficulties are common in the patients. However, NDDs, such as language development disorder and ID, could hardly be assessed in patients younger than 2 years old.

Methods

We describe a 9-month-old female with DD, failure to thrive, and facial dysmorphism. Genetic analysis was conducted by whole exome sequencing (WES) and confirmed by Sanger sequencing.

Results

In addition

SUBMITTER: Tan L 

PROVIDER: S-EPMC8077090 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature