Genetic Diagnostics and Phenotypic Profiling of a Girl With Autosomal Recessive Intellectual Developmental Disorder...

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Pediatric Neurology

Background:

• Autism spectrum disorder (ASD) and developmental delay (DD) are complex neurodevelopmental conditions.
• Accurate genetic diagnosis is crucial for understanding disease mechanisms and prognosis.

Observation:

• A five-year-old girl presented with ASD, marked intellectual disability, and neurological signs including leukoencephalopathy and hypotonia.
• Initial genetic testing (microarray-based CNV) was negative.
• Whole exome sequencing (WES) revealed a homozygous pathogenic variant in the EIF3F gene.

Findings:

• The identified EIF3F variant confirmed a diagnosis of intellectual developmental disorder autosomal recessive 67.
• Segregation analysis showed asymptomatic parents were carriers of the EIF3F variant.
• This case expands the phenotypic profile of EIF3F-related intellectual developmental disorder.

Implications:

• Whole exome sequencing is indispensable for diagnosing rare genetic causes of autism and developmental delay.
• WES should be considered a routine diagnostic tool for unexplained neurodevelopmental disorders.
• This study underscores the value of advanced genetic diagnostics in Slovakia.