Advances in the Molecular Pathology on deafness have made possible to discover the molecular basis of hereditary hearing loss, identifying that the most frequent mutations described are 35delG, in congenital deafness, and A1555G in late-onset deafness. These methods are part of the diagnostic process, or clinical method. 

To report results using clinical tools and molecular methods in the study of deaf persons

Materials and methods

A total of 860 people suffering congenital hearing loss registered in the National Center of Medical Genetics were clinically analyzed, and classified as syndromic and non syndromic; 76 index cases were selected in which the presence of the 35delG mutation was explored. In 15 cases, identified as maternally transmitted deafness, the presence of the A1555G mutation was explored and the relationship between the history of exposure to aminoglycosides and the presence of this mutation was determined through the X2 test.

Diseases with a genetic cause were identified in 204 patients 103 suffering syndromic deafness and 101 non syndromic deafness; out of them, 25 had the 35delG mutation, (14 homozygous and 11 heterozygous) and  seven  A1555G mutation was identified in seven index cases and in all their relatives studied. A statistically significant relationship was demonstrated between exposure to aminoglycosides and the presence of the A1555G mutation. 

The diagnostic process requires the integration of all its tools, including molecular studies.

•Outstanding researcher University of Medical Sciences of Havana, 2022

•Annual Health Award of the Ministry of Public Health of the Republic of Cuba, 2019

•Academy of Sciences Award of the Republic of Cuba, 2019.

•Included in the Who's who in the world 14 Edition, 1997; nominated for the Millennium Edition of the Who's Who in Medicine and Healthcare, 2000

•Main editor of the Clinical Genetics website: http://especialidades.sld.cu/geneticaclinica

•Vice President of the Cuban Society of Human Genetics

•Member of the National Group of Clinical Genetics, Ministry of Public Health of the Republic of Cuba

•Member of the editorial boards of three scientific journals and referee of serial publications.

•Member of the panel of Scientific Degrees, teaching categories and evaluation of specialties.