Article
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Blood - 20 Apr 2017
Tesi Bianca, Davidsson Josef, Voss Matthias, Rahikkala Elisa, Holmes Tim D, Chiang Samuel C C, Komulainen-Ebrahim Jonna, Gorcenco Sorina, Rundberg Nilsson Alexandra, Ripperger Tim, Kokkonen Hannaleena, Bryder David, Fioretos Thoas, Henter Jan-Inge, Möttönen Merja, Niinimäki Riitta, Nilsson Lars, Pronk Cornelis Jan, Puschmann Andreas, Qian Hong, Uusimaa Johanna, Moilanen Jukka, Tedgård Ulf, Cammenga Jörg, Bryceson Yenan T
Abstract excerpt
Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently been identified. We studied 2 families with cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction. Genetic studies uncovered heterozygous missense mutations in SAMD9L, a tumor suppressor gene located on chromosome arm 7q. Consistent with a gain-of-function effect,...
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