Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia

Raffaele Ferrari, Dimitrios Kapogiannis, Edward D. Huey, Jordan Grafman, John Hardy, Parastoo Momeni*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Frontotemporal dementia (FTD) is the second major cause of dementia in persons below the age of 65 years after Alzheimer disease. FTD is clinically, pathologically, and genetically heterogeneous and has been associated with mutations in different genes located on chromosomes 17, 9, and 3. In our study we report a novel heterozygous g.26218G>A variant in exon 6 of charged multivesicular body protein 2B (CHMP2B), predicted to cause the amino acid change p.Ser187Asn, in one patient diagnosed with FTD. We were not able to determine the mode of inheritance of the mutation as we did not have access to the genetically informative family members of the proband; those who were screened did not carry the variant. We did not find this variant in 273 White controls although we did find it in 6 of 94 African-American controls. Most of the mutations in CHMP2B which are considered pathogenic lead to partial deletion of the C-terminus region of CHMP2B protein. Based on previous reports and on our current data, missense mutations in this gene seem unlikely to be pathogenic. The pathogenicity of CHMP2B mutations requires further investigation.

Original languageEnglish (US)
Pages (from-to)397-401
Number of pages5
JournalAlzheimer Disease and Associated Disorders
Volume24
Issue number4
DOIs
StatePublished - Oct 2010

Keywords

  • CHMP2B
  • Dementia
  • FTD
  • Gene
  • Missense mutation

ASJC Scopus subject areas

  • Clinical Psychology
  • Gerontology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health

Fingerprint

Dive into the research topics of 'Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia'. Together they form a unique fingerprint.

Cite this