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Article

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

American journal of medical genetics. Part A - 1 Feb 2018

Jeffries Lauren, Shima Hirohito, Ji Weizhen, Panisello-Manterola David, McGrath James, Bird Lynne M, Konstantino Monica, Narumi Satoshi, Lakhani Saquib

Abstract excerpt

Germline gain-of-function variants in SAMD9 have been associated with a high risk of mortality and a newly recognized constellation of symptoms described by the acronym MIRAGE: Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy. Here, we describe two additional patients currently living with the syndrome, including one patient with a novel de novo variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29266745
DOI: 10.1002/ajmg.a.38557

Genes

SAMD9

Provenance

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