neurogenetics

, Volume 13, Issue 4, pp 333–339

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
Short Communication

DOI: 10.1007/s10048-012-0340-y

Cite this article as:
Nagamani, S.C.S., Erez, A., Probst, F.J. et al. Neurogenetics (2012) 13: 333. doi:10.1007/s10048-012-0340-y

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.

Keywords

FMR1DuplicationCopy number

Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Sandesh C. S. Nagamani
    • 1
  • Ayelet Erez
    • 1
  • Frank J. Probst
    • 1
  • Patricia Bader
    • 2
  • Patricia Evans
    • 3
  • Linda A. Baker
    • 4
  • Ping Fang
    • 1
  • Terry Bertin
    • 1
  • Patricia Hixson
    • 1
  • Pawel Stankiewicz
    • 1
  • David Nelson
    • 1
  • Ankita Patel
    • 1
  • Sau Wai Cheung
    • 1
  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  2. 2.Parkview HospitalsFort WayneUSA
  3. 3.Division of Pediatric NeurologyUniversity of Texas Southwestern School of MedicineDallasUSA
  4. 4.Children’s Medical CenterUniversity of Texas Southwestern Medical SchoolDallasUSA