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A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases
Author(s) -
Perisa Michael P.,
Rose Melissa J.,
Varga Elizabeth,
Kamboj Manmohan K.,
Spencer John D.,
Bajwa Rajinder P.S.
Publication year - 2019
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27726
Subject(s) - medicine , phenotype , exome sequencing , pediatrics , genetics , gene , biology
We present here a case of MIRAGE syndrome due to novel variant (c.2318T>C) in the sterile α motif domain‐containing protein 9 ( SAMD9 ) gene. Previous reports have described the clinical phenotype, which includes myelodysplasia, recurrent infections, restriction of growth and development, adrenal insufficiency, genitourinary abnormalities, and enteropathies, often resulting in fatality within the first few years of life. This report illustrates the variability in phenotype by describing an 11‐year‐old male, diagnosed with MIRAGE at age 9 years when his novel variant was identified through whole exome sequencing. A brief review of previously published cases of MIRAGE syndrome and the genotypic and phenotypic spectrum are presented.