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BMC Pediatrics
Published in: BMC Pediatrics 1/2019

Open Access 01-12-2019 | Anemia | Case report

Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis

Authors: Yan Zhang, Yi Zhang, Victor Wei Zhang, Chunyi Zhang, Hongke Ding, Aihua Yin

Published in: BMC Pediatrics | Issue 1/2019

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Abstract

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.
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Metadata
Title
Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis
Authors
Yan Zhang
Yi Zhang
Victor Wei Zhang
Chunyi Zhang
Hongke Ding
Aihua Yin
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2019
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-019-1733-y

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