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Case Reports
. 2019 Oct 21;19(1):364.
doi: 10.1186/s12887-019-1733-y.

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

Yan Zhang  1 , Yi Zhang  2 , Victor Wei Zhang  3   4 , Chunyi Zhang  5 , Hongke Ding  1 , Aihua Yin  6
Affiliations
Case Reports

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

Yan Zhang et al. BMC Pediatr. .

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.

Keywords: Familial; High-throughput nucleotide sequencing; MIRAGE syndrom; Normophosphatemic; Thiamine responsive megaloblastic anemia syndrome; Tumoral calcinosis.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Photograph and growth curve of the proband. a Photo of the proband’s back at 2 months, he is extremely thin and skeletonizing. b The proband with low birth weight grew slowly and lagged obviously behind the referent range [7]
Fig. 2
Fig. 2
Pedigree and verification of the de novo variation in SAMD 9 in the family. a The proband has a heterozygote variant but the parents not. b Pedigree of the patient is shown with SAMD9 / SLC19A2 genotype information. Black square indicates the patient affected by MIRAGE syndrome caused by a de novo variant in SAMD9. Rhombus indicate stillbirth. NA denotes genotype not available. Square filled with dots indicates the proband suffered from TRAM syndrome. The compound heterozygote found in the patient was carried by father and mother respectively
See this image and copyright information in PMC

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