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Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome

  • Authors:
    • Manuela Morleo
    • Daniela Iaconis
    • David Chitayat
    • Ivana Peluso
    • Rosalia Marzella
    • Alessandra Renieri
    • Francesca Mari
    • Brunella Franco

  • View Affiliations

  • Published online on: January 1, 2008     https://doi.org/10.3892/mmr.1.1.33
  • Pages: 33-39
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Abstract

We report on a female patient with severe infantile spasms, profound global developmental arrest, hypsarrhythmia and severe mental retardation, associated with a de novo apparently balanced X;autosome translocation. Her neurological phenotype resembles that of X-linked infantile spasms (ISSX). Molecular study showed that the translocation disrupts a transcript involved in GTPases signalling, IQSEC2, mapped to the Xp11.22 region. Several genes involved in intracellular signalling pathways via Ras-homologous small GTPase have been implicated in X-linked neurological disorders. Expression studies revealed that the murine homolog of this transcript, Iqsec2, is highly expressed in the nervous system from the early stages of development. These data suggest that IQSEC2 could be considered a candidate gene for X-linked neurological disorders.

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January-February 2008
Volume 1 Issue 1

Print ISSN: 1791-2997
Online ISSN:1791-3004

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  • Journal Metrics
  • Impact Factor: 3.4
  • Ranked Medicine Research and Experimental
    (total number of cites)
  • CiteScore: 6.9
  • CiteScore Rank: Q2: #98/328 Biochemistry, Genetics and Molecular Biology
  • Source Normalized Impact per Paper (SNIP): 0.721
  • SCImago Journal Rank (SJR): 0.65
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Spandidos Publications style
Morleo M, Iaconis D, Chitayat D, Peluso I, Marzella R, Renieri A, Mari F and Franco B: Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome. Mol Med Rep 1: 33-39, 2008
APA
Morleo, M., Iaconis, D., Chitayat, D., Peluso, I., Marzella, R., Renieri, A. ... Franco, B. (2008). Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome. Molecular Medicine Reports, 1, 33-39. https://doi.org/10.3892/mmr.1.1.33
MLA
Morleo, M., Iaconis, D., Chitayat, D., Peluso, I., Marzella, R., Renieri, A., Mari, F., Franco, B."Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome". Molecular Medicine Reports 1.1 (2008): 33-39.
Chicago
Morleo, M., Iaconis, D., Chitayat, D., Peluso, I., Marzella, R., Renieri, A., Mari, F., Franco, B."Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome". Molecular Medicine Reports 1, no. 1 (2008): 33-39. https://doi.org/10.3892/mmr.1.1.33