Alexandria Journal of Pediatrics, Volume 13, Number 2, July 1999 371 Clinico - Genetic Study of Dystrophinopathies: A Comparative Study Between Kuwait and Egypt Laila A. Bastaki, 1 Sadika A. Al-Awadi, 1 Allie Moosa, 2 Rabah M. Shawky, 3 and Kamal K. Naguib 1 . From the Medical Genetic Centre, Kuwait, 1 Faculty of Medicine, Kuwait University, 2 and Faculty of Medicine, Ain Shams University, Egypt. 3 Abstract: Design: Duchenne and Becker muscular dystrophies (DMD & BMD) are one of the most common X- Linked disorder in human which are caused by mutations of the dystrophin gene located on the X chromosome. Settings: This study was carried out in both Kuwait and Egypt. Objectives: Fifty two patients with dystrophinopathies were examined from both Kuwait & Egypt in order to (1) study some characteristic features of those patients and (2) identify gene deletions among them. Subjects and Methods: Twenty six patients were selected randomly from both Kuwait and Egypt. A special questionnaire including all relevant data was designed for this study. All patients were subjected to all relevant investigations including DNA analysis and muscle biopsy analyzed with three dystrophin monoclonal antibodies. The statistical package for social science (SPSS), Z test, Chi square test and Student t test were used for statistical analysis. Results: There was a significant difference between the Kuwaiti and Egyptian patients regarding maternal age (P<0.005) but not for paternal age. The onset of walking was delayed in 40.6% of the cases while the onset of weakness was noticed in 19.3% of the Kuwaiti patients before 2 years of age. Wheel chair dependency was observed in 88.8% between the age 7-12 years. In both groups 82% have an IQ above 70 & 26% had IQ above 100. ECG abnormalities were seen in 77.8% of the patients. DNA analysis showed that 71.4% of the patients had a deletion in the gene while 28.6% had no deletion. Two deleted exons were found in 24.5% and 14.3% had only one deleted exon. The most common deleted exons among Kuwaiti patients were 8, 45, 48 while exons 19, 45, 48 & 51 were deleted more commonly in the Egyptians. Conclusion: Better identification, neonatal screening and DNA examination are urgently needed for precise diagnosis. Proper genetic counseling and prenatal diagnosis are strongly recommended for prevention and management. Introduction: Dystrophinopathies are the second most common X-linked genetic disorder in humans and are caused by mutations of the dystrophin gene located on the X chromosome (Xp21). (1) Different mutations of the muscle dystrophin gene produce different allelic disorders. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the major two dystrophinopathies. The estimated incidence of DMD in different countries varies considerably and ranges between 130–390 /million male livebirths while the incidence of BMD is 10 times lower than DMD. (2-5) The aims of the present work are to study some characteristic features of those patients, identification of the gene deletions in patients with dystrophinopathies and correlate the site and size of the gene deletion with the clinical picture of these patients (published in a separate paper). Subjects and Methods: Fifty two male patients with muscular dystrophy from both Kuwait and Egypt were ascertained clinically and genetically. Twenty six patients were selected randomly from patients attending the neuromuscular out-patient clinic in Mubarak Hospital, Kuwait. For comparative study, 26 patients were selected from patients with muscular disorders who attend the genetic unit out-patient clinic at Ain-Shams University, Cairo. A special questionnaire was designed for this study including personal data, parental consanguinity, parental age, clinical picture and prognosis. All patients (after consent) were subjected to all relevant investigations: CPK level, ECG, EMG, muscle biopsy and IQ assessment. DNA analysis was carried out at the Faculty of Medicine, Kuwait University using the method of Chamberlain et al 1990, (6) where three Multiplex PCR reactions were performed with a total of 25 exons analyzed. The diagnosis was basically classified into three groups; severe muscular dystrophy, intermediate form and Becker muscular dystrophy according to Junkets