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Updated: Jan 5, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia
Yan Zhang1, Yi Zhang2, Victor Wei Zhang3,4
1Center for Medical Genetics, Guangdong Women and Children Hospital, 521 Xingnandadao, Guangzhou, 511442, China.
Background:
Phenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded. Meanwhile, earlier knowledge says patients who suffered from two kinds of different Mendelian disease are very rare.
Case Presentation:
We describe a case of neonatal male with genital anomalies, growth delay, skin hyperpigmentation, chronic lung disease with recurrent infection, anemia, and severe deafness. Without any clear etiology after routine workflow, whole exome sequencing was carried on. A pathogenic de novo SAMD9 mutation and compound heterozygous likely-pathogenic variants in SLC19A2 were identified. Some symptoms were improved after the patient was treated with vitamin B1. Unfortunately, the boy died from sepsis and multiple organ failure before 1 year old.
Conclusion:
Combining the phenotype and clinical progress of treatment, we report that it is the first case of a patient with both MIRAGE syndrome and TRMA syndrome.
Insights
This study reports the first case of a male infant with both MIRAGE syndrome and Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome. Genetic analysis revealed mutations in SAMD9 and SLC19A2, with some symptom improvement after vitamin B1 treatment.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Mendelian diseases exhibit significant phenotypic variability, necessitating expanded phenotype spectrums due to low individual disease incidence.
- Co-occurrence of two distinct Mendelian diseases in a single patient is exceptionally rare.
- Identifying novel genetic underpinnings requires comprehensive diagnostic approaches.
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