A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases

• Published in: Pediatric blood & cancer Vol. 66; no. 7; pp. e27726 - n/a
• Main Authors: Perisa, Michael P., Rose, Melissa J., Varga, Elizabeth, Kamboj, Manmohan K., Spencer, John D., Bajwa, Rajinder P.S.
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.07.2019
• Subjects: Adrenal Insufficiency - genetics; bone marrow transplant; Child; cytogenetics; Genotype & phenotype; Hematology; Humans; Intracellular Signaling Peptides and Proteins - genetics; Male; MIRAGE syndrome; molecular biology; Mutation; Myelodysplastic syndrome; Myelodysplastic syndromes; Myelodysplastic Syndromes - genetics; novel variant; Oncology; pediatric hematology/oncology; Pediatrics; Phenotypes; Phenotypic variations; SAMD9 gene; Stem cell transplantation; Whole Exome Sequencing; molecular biology; bone marrow transplant; MIRAGE syndrome; pediatric hematology/oncology; SAMD9 gene; novel variant; cytogenetics; myelodysplastic syndrome
• ISSN: 1545-5009; 1545-5017
• DOI: 10.1002/pbc.27726

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.