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Article

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.

Leukemia - 1 May 2018

Davidsson Josef, Puschmann Andreas, Tedgård Ulf, Bryder David, Nilsson Lars, Cammenga Jörg

Abstract excerpt

Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia-pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generally restricted...

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Identifiers

PMID: 29535429
DOI: 10.1038/s41375-018-0074-4
PMCID: PMC5940635

Genes

SAMD9

Provenance

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Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.PMID 29535429Read ↗

Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.Semantic proximity Read ↗

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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7Semantic proximity Read ↗

Discovery of MIRAGE syndromeSemantic proximity Read ↗

Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndromeSemantic proximity Read ↗

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.Semantic proximity Read ↗

Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.Semantic proximity Read ↗

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humansSemantic proximity Read ↗

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.Semantic proximity Read ↗

[Advance in research on MIRAGE syndrome].Semantic proximity Read ↗

Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7Semantic proximity Read ↗

Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromesSemantic proximity Read ↗

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