Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype
Blood advances, 2018•Elsevier
Discussion MIRAGE syndrome is a recently described form of syndromic congenital adrenal
insufficiency, caused by heterozygous germline missense mutations in SAMD9 with clinical
features that include MDS, infection, restricted growth, adrenal hypoplasia, ambiguous
genitalia, and enteropathy. 2 In this report, we describe the first patient to present with
congenital amegakaryocytic thrombocytopenia secondary to MIRAGE syndrome and
describe a novel disease-causing SAMD9 allele (c. 2462A> T; p. K821M). In
insufficiency, caused by heterozygous germline missense mutations in SAMD9 with clinical
features that include MDS, infection, restricted growth, adrenal hypoplasia, ambiguous
genitalia, and enteropathy. 2 In this report, we describe the first patient to present with
congenital amegakaryocytic thrombocytopenia secondary to MIRAGE syndrome and
describe a novel disease-causing SAMD9 allele (c. 2462A> T; p. K821M). In
Discussion
MIRAGE syndrome is a recently described form of syndromic congenital adrenal insufficiency, caused by heterozygous germline missense mutations in SAMD9 with clinical features that include MDS, infection, restricted growth, adrenal hypoplasia, ambiguous genitalia, and enteropathy. 2 In this report, we describe the first patient to present with congenital amegakaryocytic thrombocytopenia secondary to MIRAGE syndrome and describe a novel disease-causing SAMD9 allele (c. 2462A> T; p. K821M). In
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