Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

Sandesh C S Nagamani, Ayelet Erez, Frank J. Probst, Patricia Bader, Patricia Evans, Linda A. Baker, Ping Fang, Terry Bertin, Patricia Hixson, Pawel Stankiewicz, David Nelson, Ankita Patel, Sau Wai Cheung

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

Fragile X syndrome, the most common form of X-linked intellectual disability, results from transcriptional silencing of the FMR1 gene. As of yet, the phenotypic consequences of the duplication of FMR1 have not been well characterized. In this report, we characterize the clinical features in two females with duplications involving only the FMR1 gene. In addition, we describe the phenotypes of two subjects with deletion of FMR1 and show that both loss and gain of FMR1 copy number can lead to overlapping neurodevelopmental phenotypes. Our report supports the notion that FMR1 gene dosage is important for normal neurocognitive function.

Original languageEnglish (US)
Pages (from-to)333-339
Number of pages7
JournalNeurogenetics
Volume13
Issue number4
DOIs
StatePublished - Nov 2012

Keywords

  • Copy number
  • Duplication
  • FMR1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Cellular and Molecular Neuroscience

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