liu.seSearch for publications in DiVA
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
Skane Univ Hosp, Sweden; Lund Univ, Sweden.
Lund Univ, Sweden.
Skane Univ Hosp, Sweden.
Lund Univ, Sweden.
Show others and affiliations
2018 (English)In: Leukemia, ISSN 0887-6924, E-ISSN 1476-5551, Vol. 32, no 5, p. 1106-1115Article, review/survey (Refereed) Published
Abstract [en]

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 SAMD9Ls normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that reverse the germline mutations effect, and give rise to the clonal expansion of cells with reduced or no antiproliferative effect of SAMD9 or SAMD9L include complete or partial chromosome 7 loss or loss-of-function mutations in SAMD9 or SAMD9L. Furthermore, the complete or partial loss of chromosome 7q may cause myelodysplastic syndrome in these patients. SAMD9 mutations appear to associate with a more severe disease phenotype, including intrauterine growth restriction, developmental delay and hypoplasia of adrenal glands, testes, ovaries or thymus, and most reported patients died in infancy or early childhood due to infections, anemia and/or hemorrhages. SAMD9L mutations have been reported in a few families with balance problems and nystagmus due to cerebellar atrophy, and may lead to similar hematological disease as seen in SAMD9 mutation carriers, from early childhood to adult years. We review the clinical features of these syndromes, discuss the underlying biology, and interpret the genetic findings in some of the affected family members. We provide expert-based recommendations regarding diagnosis, follow-up, and treatment of mutation carriers.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP , 2018. Vol. 32, no 5, p. 1106-1115
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:liu:diva-148149DOI: 10.1038/s41375-018-0074-4ISI: 000431769800006PubMedID: 29535429OAI: oai:DiVA.org:liu-148149DiVA, id: diva2:1212682
Available from: 2018-06-03 Created: 2018-06-03 Last updated: 2018-06-27

Open Access in DiVA

fulltext(784 kB)81 downloads
File information
File name FULLTEXT01.pdfFile size 784 kBChecksum SHA-512
8dc15bb5ca9a1f33bd25eeef3d62d3471ad6c88964da61844048002118542057e0b550e637fe9ae8b9a3d6357656f436880f69617080f77b541a474b163b80c7
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Cammenga, Jörg
By organisation
Division of Surgery, Orthopedics and OncologyFaculty of Medicine and Health SciencesDepartment of Haematology
In the same journal
Leukemia
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
Total: 81 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 187 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf