Exome yield for early diagnosis of rare genetic diseases in pediatric patients. Narrative Review
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Introduction: The definition established by the World Health Organization of rare diseases is: «those that affect less than 5 to 7 individuals in 10,000 and approximately 6% to 8% of the world population» Theme: The most common phenotypic category of pediatric and adult cases are neurological disorders in studies conducted in different countries. In rare diseases such as platelet disorders and immunodeficiencies, the diagnostic yield of the exome is close to the 25% reported for genetic diseases of common presentation. Exome diagnostic yield data is above 50% in pediatric neurological diseases such as neuromuscular diseases, neurometabolic disorders, and hereditary spastic paraplegia and 50% in hereditary dilated cardiomyopathies. Conclusion: Technological advances such as next-generation sequencing has significantly facilitated the diagnosis and discovery of novel genes in patients with rare genetic diseases, especially with the introduction of exome sequencing.
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