Revista Cubana de Pediatría
versión On-line ISSN 1561-3119
MENENDEZ, Ibis et al. Expresión fenotípica de una sordera familiar con deleción del gen POU3F4. Rev Cubana Pediatr [online]. 1999, vol.71, n.4, pp. 205-210. ISSN 1561-3119.
A Cuban five-member family affected by a severe congenital bilateral mixed deafness with predominant sensorineural component and without morphological changes in the internal hearing is presented in this study. The transmission pattern was compatible with X-linked recessive heritage. The molecular studies detected a deletion of Xq 21 region involving POU3F4 gene which is responsible for DFN3-type deafness. Comments are made on the obvious clinical variability of DFN3-type deafness.
Palabras llave : HEARING LOSS, BILATERAL [genetic]; HEARING LOSS, BILATERAL [etiology]; HEARING LOSS, BILATERAL [complications]; LANGUAGE DISORDERS [etiology]; FUNDUS OCULI.