AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.

BACKGROUND: Auditory synaptopathy/neuropathy (AS/AN) is a heterogeneous disorder, which may be caused by environmental factors like postnatal hyperbilirubinemia or by genetic factors. The genetic forms are subdivided into syndromic and non-syndromic types, and show different inheritance patterns with a strong preponderance of autosomal-recessive forms. To date, only a single locus for non-syndromic autosomal-dominant AS/AN (AUNA1) has been reported in a single family, in which a non-coding DIAPH3 mutation was subsequently described as causative. MATERIALS AND METHODS: Here, we report detailed clinical data on a large German AS/AN family with slowly progressive postlingual hearing loss. Affected family members developed their first symptoms in their second decade. Moderate hearing loss in the fourth decade then progressed to profound hearing impairment in older family members. Comprehensive audiological and neurological tests were performed in the affected family members. Genetic testing comprised linkage analyses with polymorphic markers and a genome-wide linkage analysis using the Affymetrix GeneChip® Human Mapping 250K. RESULTS AND CONCLUSION: We identified a large family with autosomal-dominant AS/AN. By means of linkage analyses, the AUNA1 locus was excluded, and putatively linked regions on chromosomal bands 12q24 and 13q34 were identified as likely carrying the second locus for autosomal-dominant AS/AN (AUNA2). AUNA2 is associated with a slowly progressive postlingual hearing loss without any evidence for additional symptoms in other organ systems.

Morcegos (Mammalia: Chiroptera) da região do Médio Rio Teles Pires, Sul da Amazônia, Brasil / Bats (Mammalia: Chiroptera) from the Middle Teles Pires River region, Southern Amazonia, Brazil

Amazonia is the largest tropical rainforest in the world and at least 147 bat species occur in this environment. Despite its richness, the diversity of bat fauna is poorly known for this region and there are large gaps in its knowledge. This study aims to describe the bat assemblage of the Middle Teles Pires River (MTP) region, southern Amazonia. Furthermore, we evaluated the similarity of this assemblage in relation to 14 assemblages studied in other Amazonian localities, and correlations were found between the similarity values among the sites and their geographic distances. Thirty-three bat species were recorded, accounting for 71% of the estimated species richness (Jackknife2). The three species that had the higher relative abundance values were Carollia perspicillata, Pteronotus parnellii and Phyllostomus hastatus, which together accounted for more than 50% of the captures. The frugivore functional group had the highest number of recorded species. A negative correlation was found between the geographic distances and the similarities among the Amazonian bat assemblages (r = -0.22; p = 0.014). Geographic distance could explain only 6% of the similarities among the analyzed assemblages, even though, the similarity found allowed them to be grouped by their distances. Besides, the MTP bat fauna is different from other Amazonian areas, which gives it a special role in the Amazonian bat conservation.

A Amazônia é a maior floresta tropical do mundo e pelo menos 147 espécies de morcegos ocorrem neste ambiente. A despeito desta grande riqueza, a diversidade de morcegos da Amazônia é pobremente conhecida e existem grandes lacunas neste conhecimento. O objetivo do presente trabalho foi descrever a assembleia de morcegos ocorrentes na região do Médio Teles Pires (MTP), no sul da Amazônia. Além disso, avaliou-se a similaridade dessa assembleia em relação a 14 assembleias estudadas em outras localidades amazônicas e avaliou-se a correlação entre as similaridades destas localidades e suas distâncias. Trinta e três espécies de morcegos foram registradas, representando 71% das espécies estimadas (Jackknife2). As três espécies com maior abundância relativa foram:Carollia perspicillata, Pteronotus parnellii e Phyllostomus hastatus que somadas contam com mais de 50% das capturas. O grupo funcional dos frugívoros obteve o maior número de espécies capturadas. Foi encontrada uma correlação negativa entre as distâncias e as similaridades das assembleias de morcegos amazônicos (r = -0,22; p = 0,014). A distância geográfica pode explicar apenas 6% da similaridade entre as assembleias analisadas, ainda assim, as similaridades destas assembleias permitem que as mesmas sejam agrupadas por suas distâncias geográficas. Além disso, a fauna de morcegos do MTP é diferenciada de outras áreas da Amazônia o que lhe confere um papel especial na conservação dos morcegos amazônicos.