[BCL11B associated disorder a case report in Mexican population. Case report]

Area of Science:

• Genetics
• Developmental Biology
• Immunology

Background:

• Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (IDDSFTA) is a rare genetic disorder.
• BCL11B gene variants are associated with IDDSFTA, presenting with neurodevelopmental, facial, and immunological abnormalities.

Observation:

• A 4-year-old Mexican male presented with significant neurodevelopmental and language delays.
• Clinical features included dysmorphic facial features, hypodontia, and borderline ear set.
• Whole Exome Sequencing identified a likely pathogenic variant in the BCL11B gene.

Findings:

• The identified BCL11B variant is novel and has not been previously reported in scientific literature.
• This represents the first reported case of IDDSFTA in the Mexican population.
• The patient's phenotype aligns with previously described IDDSFTA cases, supporting the variant's etiological role.

Implications:

• This case expands the known spectrum of BCL11B-related disorders.
• It highlights the importance of genetic testing for rare developmental disorders.
• Further research into BCL11B variants can improve diagnostic and therapeutic strategies for IDDSFTA.