A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.

ABSTRACT:

Purpose

We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, short stature, intermittent headaches, recurrent dizziness, strabismus, hypermetropia, complex movement disorder and partial pituitary dysfunction. After years of detailed clinical investigations and careful pediatric care, the exact diagnosis of the patient and the cause of the disease was still unknown.

Methods

We aimed to perform whole exome sequencing (WES) in order to investigate whether the affected patient is suffering from a rare monogenic disease.

Results

Using WES, we identified a novel, de novo frameshift variant (c.1902dupG

SUBMITTER: Nagy N 

PROVIDER: S-EPMC10789033 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature