Novel truncating PPM1D mutation in a patient with intellectual disability

Area of Science:

• Genetics
• Developmental Biology
• Medical Genetics

Background:

• Truncating mutations in the PPM1D gene are linked to intellectual disability.
• Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold (IDDGIP) is a recognized condition associated with PPM1D mutations.

Observation:

• A patient with a novel de novo truncating mutation (NM_003620.3: c.1535del, p.(Asn512Ilefs*2)) in the PPM1D gene was identified.
• The patient exhibited short stature, small hands and feet, cleft lip and palate, and an aberrant right subclavian artery.

Findings:

• The patient presented with features overlapping previously reported PPM1D-related phenotypes.
• Crucially, this patient lacked gastrointestinal issues and fever episodes, unlike previously described cases.

Implications:

• This case expands the known phenotypic spectrum of PPM1D-related disorders.
• It underscores the importance of considering genetic variability in intellectual developmental disorders and associated symptoms.