Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review

Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese patient with non-syndromic enlarged vestibular aqueduct (NSEVA) and to investigate the impact of variants on the severity of non-syndromic enlarged vestibular aqueduct. A male patient with NSEVA, aged approximately 6 years, was recruited for this study. The clinical characteristics and results of auxiliary examinations, including laboratory and imaging examinations, were collected, and 127 common hereditary deafness genes were detected by chip capture high-throughput sequencing. Protein structure predictions, the potential impact of mutations, and multiple sequence alignments were analyzed in silico. Compound heterozygote mutations c.1523_1528delinsAC (p.Thr508Asnfs*3) and c.422T>C (p.Phe141Ser) in the SLC26A4 gene were identified. The novel frameshift mutation c.1523_1528delinsAC produces a severely truncated pendrin protein, and c.422T>C has been suggested to be a disease-causing mutation. Therefore, this study demonstrates that the novel mutation c.1523_1528delinsAC in compound heterozygosity with c.422T>C in the SLC26A4 gene is likely to be the cause of NSEVA. Cochlear implants are the preferred treatment modality for patients with NSEVA and severe-to-profound sensorineural hearing loss Genetic counseling and prenatal diagnosis are essential for early diagnosis. These findings expand the mutational spectrum of SLC26A4 and improve our understanding of the molecular mechanisms underlying NSEVA

Largely tunable band structures of few-layer InSe by uniaxial strain

Due to the strong quantum confinement effect, few-layer {\gamma}-InSe exhibits a layer-dependent bandgap, spanning the visible and near infrared regions, and thus recently draws tremendous attention. As a two-dimensional material, the mechanical flexibility provides an additional tuning knob for the electronic structure. Here, for the first time, we engineer the band structures of few-layer and bulk-like InSe by uniaxial tensile strain, and observe salient shift of photoluminescence (PL) peaks. The shift rate of the optical gap is approximately 90-100 meV per 1% strain for 4- to 8-layer samples, which is much larger than that for the widely studied MoS2 monolayer. Density functional calculations well reproduce the observed layer-dependent bandgaps and the strain effect, and reveal that the shift rate decreases with increasing layer number for few-layer InSe. Our study demonstrates that InSe is a very versatile 2D electronic and optoelectronic material, which is suitable for tunable light emitters, photo-detectors and other optoelectronic devices.Comment: submitte