Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration
| Autor: | Zofia Swinderek-Alsayed, Vida Čulić, Davor Petrović |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0303 health sciences
Pediatrics medicine.medical_specialty medicine.diagnostic_test business.industry Genetic heterogeneity 030305 genetics & heredity Magnetic resonance imaging Ocular Motor Apraxia medicine.disease Joubert syndrome 03 medical and health sciences Breathing abnormalities Pediatrics Perinatology and Child Health Mutation (genetic algorithm) medicine Joubert syndrome consanguineous family AHI1 mutation business Genetics (clinical) 030304 developmental biology |
| Zdroj: | J Pediatr Genet |
| DOI: | 10.1055/s-0040-1721826 |
| Popis: | Joubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases. |
| Databáze: | OpenAIRE |
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