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Ultima descărcare din IBN: 2024-01-30 13:35 |
SM ISO690:2012 PARII, Sergiu. Hipoacuzia neurosenzorială genetică: paricularităţi clinice şi aspecte diagnostice. In: Curierul Medical, 2012, nr. 4(328), pp. 50-53. ISSN 1875-0666. |
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Curierul Medical | ||||||
Numărul 4(328) / 2012 / ISSN 1875-0666 | ||||||
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Hearing loss is a public health problem with incidence of approximately 1 in 1000 newborns. Hearing loss may appear at birth or later at any age, from early childhood to adulthood. Early detection allows early intervention with rehabilitation and social integration. Genetic hearing loss is amonogenic diseases, characterized by high heterogeneity. Causes of hearing loss: 50% causes environmental or environment-gene interaction and 50% genetic, syndromic deafness of which 20% syndromic deafness and nonsyndromic 70% hearing loss. The most common GJB2 gene mutation, found in European population is 35delG mutation, is for 70% of all mutations of this gene. Genetic testing, especially for Conexina 26, must be part of the initial assessment of child deafness, for the better understanding of both the cause and the effectiveness of intervention in the recovery of auditory-verbal, but mainly for genetic counseling and implications for family. |
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Cuvinte-cheie genetic hearing loss, Conexina 26, genetic tests |
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