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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.
Clinical exome sequencing (CES) effectively diagnosed genetic diseases in 60% of pediatric patients. This study identified 30 novel mutations, advancing the understanding of childhood genetic disorders.
Area of Science:
- Genomics
- Medical Genetics
- Pediatric Diseases
Background:
- Genomic sequencing advancements enable precise diagnosis of genetic disorders.
- Clinical exome sequencing (CES) is a key tool in modern genetic diagnostics.
Purpose of the Study:
- To evaluate the diagnostic yield of CES in pediatric patients with suspected genetic disorders.
- To identify significant genetic variants contributing to childhood diseases.
Main Methods:
- Retrospective analysis of CES results from 68 pediatric patients.
- Evaluation of patients with diverse system involvements and suspected genetic origins.
Main Results:
- CES identified significant variants in 41 (60%) of the 68 pediatric patients.
- Single nucleotide variants (SNVs) were found in 39 patients (46 SNVs total), with 30 being novel.
- Copy number variations were detected in two patients.
Conclusions:
- CES demonstrates a high diagnostic rate (60%) for pediatric genetic diseases.
- The identification of 30 novel mutations expands the known mutation profiles for genetic disorders.
- CES is a valuable method for diagnosing complex genetic conditions in children.
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