Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case
Giavanna Verdi, Aleksandra Foksinska, Elizabeth L Nichols, Erinn O Schmit, Andrew Watson, Madeline Eckenrode, Nathaniel H Robin · 2026
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Description
Verdi and co-authors show how gene sequencing solved the puzzle of a baby girl born with many unrelated problems. Their 2026 Clinical Case Reports paper follows a thirteen-month-old with a small head, weak muscles, hearing and vision loss, hair loss, and underdeveloped kidneys. Standard metabolic and immune workups found no explanation for her condition.
A stepwise genetic evaluation ended with exome sequencing, which reads the protein-coding parts of the genome. It found two uncertain variants, one inherited from each parent, in a gene called ZPR1. Similar variants had been reported in a syndrome matching her features, including growth problems and kidney underdevelopment. The team argues the variants are likely responsible and urges exome testing for such complex childhood cases.
Catalog record
| CREATOR | Giavanna Verdi, Aleksandra Foksinska, Elizabeth L Nichols, Erinn O Schmit, Andrew Watson, Madeline Eckenrode, Nathaniel H Robin |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 13 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |