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Factor V Leiden Mutation as a Novel Marker in Children with Cerebral Palsy

Doaa M Mahrous Alshareef, Hanan Mostafa Kamel, Waleed Mahmoud Abd el Hameed and Abdel Halim E Amin

Background: Gene mutations are known to play a role in the development of cerebral palsy (CP). The aim of this study was to determine the frequency of factor V Leiden (fVL) mutation as an etiological novel marker in Egyptian children with cerebral palsy.

Methods: The study included 70 children; 50 patients with cerebral palsy (Group I) and 20 healthy subjects (Group II) matched age and sex as a control group. Venous blood samples were used for DNA extraction using PCR testing. Polymerase chain reaction (PCR) primers were designed based on exon 10 sequence of human factor V gene.

Key findings: There was insignificant difference between both groups regarding comparison of demographic characteristics and risk factors except for pre-term birth (26% in study group versus 5% in control group with P = 0.04). The frequency of fVL mutation was 42% in the study group, 15% in control group with significant difference between study and control groups. There was a significant association and for the first time between homozygous fVL mutation and severe type of cerebral palsy; 60% of homozygous mutations associated with severe CP versus 9% of heterozygous mutations.

Conclusions: The fVL mutation is one of the major risk factors that may increase the likelihood of cerebral thrombo-embolism and subsequent cerebral palsy in Egyptian children.