The GNAS1 gene in myelodysplastic syndromes (MDS)

Danika Di Giacomo; Anair Graciela Lema Fernandez; Tiziana Pierini; Barbara Crescenzi; Lucia Brandimarte; Caterina Matteucci; Nicoletta Testoni; Cristina Mecucci

doi:10.1016/j.leukres.2014.03.017

The GNAS1 gene in myelodysplastic syndromes (MDS)

Leuk Res. 2014 Jul;38(7):804-7. doi: 10.1016/j.leukres.2014.03.017. Epub 2014 Mar 29.

Authors

Danika Di Giacomo¹, Anair Graciela Lema Fernandez¹, Tiziana Pierini¹, Barbara Crescenzi¹, Lucia Brandimarte¹, Caterina Matteucci¹, Nicoletta Testoni², Cristina Mecucci³

Affiliations

¹ Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
² Institute of Hematology and Medical Oncology "Seràgnoli", University of Bologna, Bologna, Italy.
³ Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy. Electronic address: cristina.mecucci@unipg.it.

PMID: 24795070
DOI: 10.1016/j.leukres.2014.03.017

Abstract

GNAS1 gene is located at the long arm of chromosome 20 (q13.32). GNAS1 gene deletion has never been investigated in MDS. A GNAS1 activating mutation (R201) was recently found in MDS. We applied FISH and DHPLC plus sequencing to investigate GNAS1 gene in MDS cases with and without del(20q) at karyotype.

Keywords: GNAS1; Haplo-insufficiency; MDS; del(20q)/20q−.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Aged
Chromogranins
Chromosomes, Human, Pair 20*
Female
GTP-Binding Protein alpha Subunits, Gs / genetics*
Gene Deletion
Humans
In Situ Hybridization, Fluorescence
Male
Mutation
Myelodysplastic Syndromes / genetics*

Substances

Chromogranins
GNAS protein, human
GTP-Binding Protein alpha Subunits, Gs