RESUMO
We report a rare case of an inverted papilloma with an unusual clinical course: development in the middle ear, multiples recurrences, and invasion of the temporal bone.
Assuntos
Neoplasias Cerebelares/secundário , Neoplasias da Orelha/patologia , Pólipos Nasais/patologia , Neoplasias Nasais/patologia , Papiloma/patologia , Orelha Média/patologia , Evolução Fatal , Feminino , Perda Auditiva Neurossensorial/etiologia , Humanos , Mucosa Nasal/patologia , Mucosa Nasal/cirurgia , Pólipos Nasais/cirurgia , Invasividade Neoplásica , Recidiva Local de Neoplasia , Papiloma/cirurgia , Neoplasias Cranianas/secundário , Osso Temporal/patologia , Zumbido/etiologiaRESUMO
In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI. Two of his brothers had a similar phenotype. All three siblings were homozygous carriers of the CDA1 mutation as well as of a distally located approximately 70 kb deletion of the proximal copy of a 106 kb tandem repeat on chromosome 15q15. These repeats encode four genes whose distal copies may be considered pseudogenes. Lack of functional stereocilin and CATSPER2 (a voltage-gate cation channel expressed specifically in spermatozoa) may explain the observed deafness and male infertility phenotypes. To the best of our knowledge, the involvement of CATSPER2 in asthenoteratozoospermia is the first description of a human autosomal gene defect associated with nonsyndromic male infertility.