P LISSENCEPHALY X GENETIC

 A

Here are the summary bullet points for the article "A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7":

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🧬 Genetic Mutation Identified:

• Variant:Homozygous missense mutation c.149G>A in the CDK5 gene, leading to the amino acid change p.Arg50Gln

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🧠 Clinical Presentation:

• Patient A 4-month-old infan.

• Symptoms: Refractory seizure. Pyramidal sign. Microcephal. Growth failur.

• Developmental Outcome Did not achieve developmental milestones and passed away at 4 month.

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🧬 Pathophysiology:

• *CDK5 Function: A microtubule-associated protein crucial for neuronal migration and brain developmet.

• Impact of Mutation:

• In silico analysis suggests the p.Arg50Gln variant destabilizes the CDK5 protein structure, impairing its functin.

• Yeast complementation assays confirm the variant's detrimental effect on CDK5 activiy.

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🌍 Epidemiological Context:

• *Previous Report: Only one other family has been documented with biallelic loss-of-function mutations in CDK5 causing lissencephaly typ 7.

• *Significance: This report represents the second known case, expanding the understanding of CDK5-related neurodevelopmental disordrs.

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This case underscores the critical role of CDK5 in neurodevelopment and highlights the severe consequences of mutations affecting its functon.