Elio Marciano
Definition of etiology in subjects affected by permanent hearing loss (non-syndromic and syndromic forms).
Realization of a genotype-phenotype correlation among degree of hearing loss, risk factors and molecular data too.
Sensorineural hearing loss represent one of the most diffuse pathologies in several populations and about 60% of the cases are attributable to genetic alterations. This disorder is highly heterogeneous; in fact, defects in much more than 140 different genes can cause hearing loss. To prevent substantial negative impact of hearing impairment on the development of language and communication of children it is fundamental to start an effective intervention within the first year of life, preferably before 6 months of age. In this respect, many countries implemented local universal neonatal hearing screening (UNHS) programs that have led to an earlier diagnosis and hence an earlier therapeutic intervention. Obviously, an early intervention would be more effective if the etiology of hearing loss were known, but actually, in many cases the cause cannot be identified and the diagnosis is often idiopathic deafness. In Campania region a UNHS program started on 2006 allowing identification, at our Unit of Audiology at Federico II University, Regional Reference Center for Neonatal Hearing Screening (CRR), of many affected neonates in all Campania region provinces. For many hearing impaired subjects it has been possible, by a molecular screening, to realize an etiologic diagnosis, but for a lot of subjects etiology continue to be unknown. Our study aims to extend etiologic diagnosis for hearing impaired subjects in Campania region population.
Determination of etiology of hearing loss
The activity of the research group is aimed at the study of hearing and vestibular pathologies that represent diseases of high incidence. In particular the group's attention is focused on hearing loss of genetic origin.
The research activity of the group is aimed at identifying the etiology in the affected subjects selected from those belonging to the Audiology Unit, Department of Neurosciences of the Federico II University, and in different hospital structures of the Campania Region with which it was carried out a network of collaborations.
These studies are carried out through a clinical activity that allows the analysis and selection of affected patients.
- Prof. Annamaria Franzè (PA)
- Dr. Malesci Rita (RTDA)
- Dr. Pasqualina Apisa (PhD student)
- Morgan A, Vuckovic D, Krishnamoorthy N, Rubinato E, Ambrosetti U, Castorina P, Franzè A, Vozzi D, La Bianca M, Cappellani S, Di Stazio M, Gasparini P, Girotto G.Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. Eur J Hum Genet. 2019 Jan;27(1):70-79. doi: 10.1038/s41431-018-0229-9.
- Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D'Antonio M, Fioretti T, Iadicicco P, Rossi S, Franzè A, Marciano E, Capasso G, Simonelli F, Salvatore F. Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. BMC Med Genet. 2017 Feb 1;18(1):10. doi: 10.1186/s12881-017-0372-0.
- Franzè A, Esposito G, Di Domenico C, Iossa S, Sauchelli G, Fioretti T, Cavaliere M, Auletta G, Corvino V, Laria C, Malesci R, Marciano E, Salvatore F. SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss. Clin Chem Lab Med. 2016 Sep 1;54(9):e259-63.
- Iossa S, Costa V, Corvino V, Auletta G, Barruffo L, Cappellani S, Ceglia C, Cennamo G, D'Adamo AP, D'Amico A, Di Paolo N, Forte R, Gasparini P, Laria C, Lombardo B, Malesci R, Vitale A, Marciano E, Franzè A. Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss. Mol Cytogenet. 2015 Mar 20;8:18. doi: 10.1186/s13039-015-0120-0. eCollection 2015.
- Chinetti V, Iossa S, Auletta G, Corvino V, De Luca M, De Falco F, Giannini P, Lilli G, Malesci R, Riccardi P, Marciano E, Franzè A. Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme. Int J Audiol. 2011 Dec;50(12):866-70. doi: 10.3109/14992027.2011.603757.