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Article

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.

Journal of medical genetics - 1 Feb 2018

Shima Hirohito, Koehler Katrin, Nomura Yumiko, Sugimoto Kazuhiko, Satoh Akira, Ogata Tsutomu, Fukami Maki, Jühlen Ramona, Schuelke Markus, Mohnike Klaus, Huebner Angela, Narumi Satoshi

Abstract excerpt

BACKGROUND: Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy (MIRAGE) syndrome is a recently described congenital disorder caused by heterozygous SAMD9 mutations. The phenotypic spectrum of the syndrome remains to be elucidated. METHODS AND RESULTS: We describe two unrelated patients who showed manifestations compatible with MIRAGE syndrome, with the...

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Source

Identifiers

PMID: 29175836
DOI: 10.1136/jmedgenet-2017-105020

Genes

SAMD9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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