Factor V Leiden Mutation as a Novel Marker in Children with Cerebral Palsy Doaa M Mahrous Alshareef 1 , Hanan Mostafa Kamel 2 , Waleed Mahmoud Abd el Hameed *2 and Abdel Halim E Amin 3 1 Departments of Pediatrics, Clinical Pathology Department, Faculty of Medicine, Minia University, Egypt 2 Clinical Pathology, Clinical Pathology Department, Faculty of Medicine, Minia University, Egypt 3 Obstetrics & Gynecology, Faculty of Medicine, El-Minia University, Egypt *Corresponding author: Waleed Mahmoud Abd el Hameed, Clinical Pathology Department, Faculty of Medicine, Minia University, Egypt, Tel: 01005200719; E-mail: waleed_mahmoud72@yahoo.com Received date: February 08, 2016; Accepted date: March 16, 2016; Published date: March 22, 2016 Copyright: © 2016 Mahrous Alshareef M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Abstract 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. Keywords: Cerebral palsy; Risk factors; Factor V Leiden mutation Introduction Cerebral palsy (CP) is a heterogeneous condition with multiple causes; multiple clinical types; multiple patterns of neuropathology on brain imaging; multiple associated developmental pathologies, such as intellectual disability, autism, epilepsy, and visual impairment; and more recently multiple rare pathogenic genetic mutations [1]. Globally, cerebral palsy is a common neurologic problem in children and is reported as occurring in approximately 1.5-3 of 1000 live births [2,3]. In Egypt, the prevalence of cerebral palsy in children was 3.6 per 1,000 live birth in another study recorded in Al-Quseir City. Te currently high prevalence of cerebral palsy in our country may be attributed to an improved survival rate of preterm and low birth weight infants reported with cerebral palsy [4]. While CP was initially attributed to injuries resulting from birth asphyxia, recent studies have shown that in actuality it includes a myriad of factors. Injury to the developing brain may be prenatal, natal or postnatal. Risk factors were known to play a role in the development of cerebral palsy includes; multiple gestation, gender, infection, prematurity and low birth weight as well as genetic determinants [5]. Mutations in genes associated with the coagulation cascade trigger hypercoagulable states (hereditary thrombophilia) that, in theory, increase the risk of cerebral palsy [6]. Te factor V Leiden (fVL) mutation is the most common form of hereditary thrombophilia, and heterozygosity increases the risk of thrombosis three to seven folds [7]. Te aim of this study was to determine the frequency of factor fVL mutation in Egyptian cerebral palsy children In El-Minia Governorate, and to ascertain whether children with cerebral palsy have higher frequency of factor V leiden mutation compared with normal children, aiming to decrease the frequency of occurrence of cerebral palsy by diagnosing the mutation and trying to control the environmental circumstances. Materials and Methods Te study included 70 children; 50 patients with cerebral palsy (Group I; study group) selected from the out patients’ pediatric neurology clinic and pediatric in-patients’ department in El-Minia University Children Hospital, in the period from November 2014 to July 2015. In addition to 20 healthy subjects (Group II; control group) matched age and gender as a control group. Children with cerebral palsy secondary to CNS infections, kernicterus, head trauma or intracranial hemorrhage were excluded. All patients and their families were interviewed in details of thorough history (demographic characteristics, consanguinity, pregnancy, delivery, perinatal events, etc.). All participants were subjected to complete general examination and full neurological examination, brain CT scan. Venous blood samples were collected from all patients using standard phlebotomy. Samples were collected from each case, in lavender-top (EDTA) tube. Te samples were used for DNA extraction. Blood samples were centrifuged at 3000 rpm for 10 minutes plasma was separated and Immunome Research Mahrous Alshareef, et al., Immunome Res 2016, 12:1 DOI: 10.4172/1745-7580.10000107 Research Article Open Access Immunome Res ISSN:1745-7580 IMR, an open access journal Volume 12 • Issue 1 • 10000107 I m m u n o me R e s e a r c h ISSN: 1745-7580