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Clinical Exome Sequencing in Pediatric Patients
Orhan Görükmez1, Özlem Görükmez1, Ali Topak2
1Medical Genetics, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, TUR.
Introduction:
The development of genomic sequencing techniques has led to the effective diagnosis of genetic diseases. In this study, clinical exome sequencing (CES) results applied to genetic disorders are reported.
Methods:
The CES results of pediatric patients with different system involvements and whose complaints were thought to be of genetic origin were evaluated retrospectively.
Results:
Significant variants associated with complaints were detected in 41 (60%) of 68 patients. Copy number variations were detected in two patients, and single nucleotide variants (SNVs) were detected in the other 39 patients. A total of 46 SNVs were detected in these 39 patients. Sixteen of the detected SNVs were previously reported in the literature, but 30 were novel.
Conclusions:
This study shows that CES can provide a high diagnosis rate (60%) in childhood genetic diseases. Novel mutations (30) have contributed to the mutation profiles of genetic disorders.
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