Study Highlights Importance of Genetic Sequencing to Diagnosis of Syndromic Growth Disorders

Researchers at the University of São Paulo in Brazil analyzed data from 115 children who suffered from conditions considered syndromic (with several associated symptoms) and found a high incidence of overlapping genetic alterations.

Alexander Augusto de Lima Jorge

In an article published November 21, 2023 in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy. The article is titled “Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.” The team used exome sequencing, in which only the protein-coding portion of the genome is analyzed, to look for genetic mutations, and found them in GCK and BCL11B. As a result, the diagnosis was monogenic diabetes and T-cell abnormality syndrome, both of which are rare diseases. Identification of the exact cause of the problem and the discovery of a blood sugar alteration significantly influenced their choice of treatment. 

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