@article {10822,
	title = {Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.},
	journal = {Eur J Hum Genet},
	volume = {27},
	year = {2019},
	month = {2019 01},
	pages = {70-79},
	abstract = {<p>Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts, additional HHL-genes and ARHL genetic risk factors still need to be identified. To fill this gap a large genomic screening based on next-generation sequencing technologies was performed. Whole exome sequencing in a 3-generation Italian HHL family and targeted re-sequencing in 464 ARHL patients were performed. We detected three variants in SPATC1L: a nonsense allele in an HHL family and a frameshift insertion and a missense variation in two unrelated ARHL patients. In silico molecular modelling of all variants suggested a significant impact on the structural stability of the protein itself, likely leading to deleterious effects and resulting in truncated isoforms. After demonstrating Spatc1l expression in mice inner ear, in vitro functional experiments were performed confirming the results of the molecular modelling studies. Finally, a candidate-gene population-based statistical study in cohorts from Caucasus and Central Asia revealed a statistically significant association of SPATC1L with normal hearing function at low and medium hearing frequencies. Overall, the amount of different genetic data presented here (variants with early-onset and late-onset hearing loss in addition to genetic association with normal hearing function), together with relevant functional evidence, likely suggest a role of SPATC1L in hearing function and loss.</p>},
	issn = {1476-5438},
	doi = {10.1038/s41431-018-0229-9},
	author = {Morgan, Anna and Vuckovic, Dragana and Krishnamoorthy, Navaneethakrishnan and Rubinato, Elisa and Ambrosetti, Umberto and Castorina, Pierangela and Franz{\`e}, Annamaria and Vozzi, Diego and La Bianca, Martina and Cappellani, Stefania and Di Stazio, Mariateresa and Gasparini, Paolo and Girotto, Giorgia}
}
@article {10534,
	title = {Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.},
	journal = {Mutat Res},
	volume = {800-802},
	year = {2017},
	month = {2017 08},
	pages = {29-36},
	abstract = {<p>Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations. In this study we analysed 18 Qatari families affected by non-syndromic hearing loss using a targeted sequencing approach that allowed us to analyse 81 genes simultaneously. Thanks to this approach, 50\% of these families (9 out of 18) resulted positive for the presence of likely causative alleles in 6 different genes: CDH23, MYO6, GJB6, OTOF, TMC1 and OTOA. In particular, 4 novel alleles were detected while the remaining ones were already described to be associated to HHL in other ethnic groups. Molecular modelling has been used to further investigate the role of novel alleles identified in CDH23 and TMC1 genes demonstrating their crucial role in Ca2+ binding and therefore possible functional role in proteins. Present study showed that an accurate molecular diagnosis based on next generation sequencing technologies might largely improve molecular diagnostics outcome leading to benefits for both genetic counseling and definition of recurrence risk.</p>},
	keywords = {Adolescent, Alleles, Cadherins, Child, Child, Preschool, Connexins, Female, GPI-Linked Proteins, Hearing Loss, Sensorineural, Humans, Infant, Male, Membrane Proteins, Models, Molecular, Mutation, Myosin Heavy Chains, Pedigree, Protein Conformation, Qatar, Sequence Analysis, DNA},
	issn = {1873-135X},
	doi = {10.1016/j.mrfmmm.2017.05.001},
	author = {Alkowari, Moza K and Vozzi, Diego and Bhagat, Shruti and Krishnamoorthy, Navaneethakrishnan and Morgan, Anna and Hayder, Yousra and Logendra, Barathy and Najjar, Nehal and Gandin, Ilaria and Gasparini, Paolo and Badii, Ramin and Girotto, Giorgia and Abdulhadi, Khalid}
}
