Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Clinical Case Studies

Background:

• PURA-related neurodevelopmental disorder is a rare genetic condition.
• Pathogenic variants in the PURA gene can lead to significant neurodevelopmental challenges.

Observation:

• A case of a child with PURA-related neurodevelopmental disorder caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*) is presented.
• Clinical manifestations included microcephaly, brachygnathia, severe hypotonia, developmental delay, feeding and respiratory difficulties, and regression of development.
• The patient's development at 10 years old was comparable to that of a 6-month-old infant.

Findings:

• The specific variant c.175C>T (p.Gln59*) in the PURA gene was identified as the cause.
• Significant variability in clinical symptoms exists, even among patients with the identical genetic variant.
• The presence or absence of epilepsy and congenital malformations can differ.

Implications:

• This case underscores the phenotypic heterogeneity associated with PURA gene variants.
• Long-term clinical monitoring and individualized medical support are crucial for patients with PURA-related neurodevelopmental disorder.
• Further research is needed to understand the full spectrum of this disorder and its management.