Case report: A novel

Area of Science:

• Genetics
• Developmental Biology
• Clinical Medicine

Background:

• DYRK1A syndrome (Intellectual developmental disorder 7) is an autosomal dominant disorder.
• Key features include intellectual disability, microcephaly, and developmental delays.
• This study focuses on identifying pathogenic variants in a Chinese pediatric case.

Observation:

• A 6-year-old girl presented with developmental delay, seizures, autistic behavior, and impaired social interaction.
• Physical findings included microcephaly, esotropia, and abnormal gait.
• Whole-exome sequencing revealed a de novo heterozygous deletion in the DYRK1A gene.

Findings:

• A 9,424 bp deletion in DYRK1A (exons 10-12) was identified as pathogenic.
• The variant was classified according to ACMGG criteria.
• This finding expands the known spectrum of DYRK1A pathogenic variants.

Implications:

• This case contributes to the understanding of DYRK1A gene mutations.
• Provides crucial data for the molecular diagnosis of DYRK1A syndrome.
• Highlights the importance of genetic sequencing in diagnosing complex developmental disorders.