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Human Genetics

, Volume 134, Issue 6, pp 671–673 | Cite as

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

  • Davut Pehlivan
  • Zeynep Coban Akdemir
  • Ender Karaca
  • Yavuz Bayram
  • Shalini Jhangiani
  • Edibe Pembegul Yildiz
  • Donna Muzny
  • Kayihan Uluc
  • Richard A. Gibbs
  • Baylor-Hopkins Center for Mendelian Genomics
  • Nursel Elcioglu
  • James R. Lupski
  • Tamar HarelEmail author
Short Report

Abstract

Charcot–Marie–Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.2000A>C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord paralysis, allowing for further delineation of the associated phenotypic spectrum.

Keywords

Vocal Cord Paralysis Motor Nerve Conduction Velocity Distal Symmetric Polyneuropathies Tooth Disease Limb Girdle Muscular Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

We thank the family for their participation in this study. Supported in part by the US National Human Genome Research Institute (NHGRI)/National Heart Lung and Blood Institute (NHLBI) Grant No. U54HG006542 to the Baylor-Hopkins Center for Mendelian Genomics. J.R.L. has stock ownership in 23andMe and Lasergen, Inc., is a paid consultant for Regeneron and, is a coinventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the chromosomal microarray analysis and clinical exome sequencing offered in the Baylor Miraca Medical Genetics Laboratory (http://www.bcm.edu/geneticlabs/). T.H. is supported by the Medical Genetics Research Fellowship Program NIH/NIGMS NIH T32 GM07526.

Supplementary material

439_2015_1548_MOESM1_ESM.pdf (858 kb)
Supplementary material 1 (PDF 858 kb) Supplementary Figure 1. Absence of heterozygosity (AOH) mapping of chromosome 4. Gray shaded areas indicate AOH regions. Vertical red line indicates the location of TRIM2 which is within the ~18 Mb AOH region

References

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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Davut Pehlivan
    • 1
    • 2
  • Zeynep Coban Akdemir
    • 2
  • Ender Karaca
    • 2
  • Yavuz Bayram
    • 2
  • Shalini Jhangiani
    • 3
  • Edibe Pembegul Yildiz
    • 4
  • Donna Muzny
    • 3
  • Kayihan Uluc
    • 5
  • Richard A. Gibbs
    • 3
  • Baylor-Hopkins Center for Mendelian Genomics
  • Nursel Elcioglu
    • 6
  • James R. Lupski
    • 2
    • 3
    • 7
    • 8
  • Tamar Harel
    • 2
    Email author
  1. 1.Section of Neurology, Department of PediatricsBaylor College of MedicineHoustonUSA
  2. 2.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  3. 3.Human Genome Sequencing Center, Baylor College of MedicineHoustonUSA
  4. 4.Section of Neurology, Department of PediatricsUniversity of Istanbul, School of MedicineIstanbulTurkey
  5. 5.Department of Pediatric NeurologyMarmara University School of MedicineIstanbulTurkey
  6. 6.Department of Pediatric GeneticsMarmara University School of MedicineIstanbulTurkey
  7. 7.Department of PediatricsBaylor College of MedicineHoustonUSA
  8. 8.Texas Children’s HospitalHoustonUSA

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