Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia

  • Authors:
    • Simone Gangarossa
    • Marco Seri
    • Alessandro Pecci
    • Filomena Di Bari
    • Roberto Cusano
    • Carlo Balduini
    • Paolo Gasparini
    • Anna Savoia
  • View Affiliations

  • Published online on: September 1, 2005     https://doi.org/10.3892/ijmm.16.3.437
  • Pages: 437-441
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Abstract

We studied a family with a suspected diagnosis of MYH9-related disease, which is one of the most common forms of autosomal dominant macrothrombocytopenias associated with hearing impairment, cataracts and nephritis. No mutation of the MYH9 gene was identified. Moreover, the A156V variant of the GPIbα gene, responsible for 30% of macrothrombocytopenias in Italy, was not detected in the family. Therefore, we hypothesized that the clinical symptoms were caused by mutations in different genes. The screening of the candidate genes for deafness and/or cataract allowed us to identify two variants, M34T and S19T, of the GJB2 gene in family members with hearing impairment. Because of the relatively common occurrence of inherited hearing loss and, at least in the Mediterranean area, of platelet macrocytosis, the two traits occurred by chance in the same family and mimicked the MYH9-related disease.

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September 2005
Volume 16 Issue 3

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Gangarossa S, Seri M, Pecci A, Di Bari F, Cusano R, Balduini C, Gasparini P and Savoia A: Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia. Int J Mol Med 16: 437-441, 2005.
APA
Gangarossa, S., Seri, M., Pecci, A., Di Bari, F., Cusano, R., Balduini, C. ... Savoia, A. (2005). Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia. International Journal of Molecular Medicine, 16, 437-441. https://doi.org/10.3892/ijmm.16.3.437
MLA
Gangarossa, S., Seri, M., Pecci, A., Di Bari, F., Cusano, R., Balduini, C., Gasparini, P., Savoia, A."Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia". International Journal of Molecular Medicine 16.3 (2005): 437-441.
Chicago
Gangarossa, S., Seri, M., Pecci, A., Di Bari, F., Cusano, R., Balduini, C., Gasparini, P., Savoia, A."Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia". International Journal of Molecular Medicine 16, no. 3 (2005): 437-441. https://doi.org/10.3892/ijmm.16.3.437