The genetic bases for non-syndromic hearing loss among Chinese

Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing. However, recent findings indicate that a large proportion of both syndromic and non-syndromic forms of deafness in the Chinese population are caused by defects in a small number of genes. Studies of the genetic epidemiology and molecular genetic features revealed that there is a clear relevance of genes causing deafness in Chinese deaf patients as well as a unique spectrum of common and rare deafness gene mutations in the Chinese population. This review is focused on the genetic aspects of non-syndromic and mitochondrial deafness, in which unique molecular genetic features of hearing impairment have been identified in the Chinese population. The current China population is approximately 1.3 billion. It is estimated that 30 000 infants are born with congenital sensorineural hearing loss each year. Better understanding of the genetic causes of deafness in the Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options

The southern Araçuaí belt and the Dom Silvério Group: geologic architecture and tectonic significance

The Araçuaí belt corresponds to the external portion of the western half of the Araçuaí-West Congo Neopro-terozoic orogen. TheAraçuaí belt fringes the São Francisco craton to east and is separated from the crystalline core of the orogen by the Abre Campo geophysical discontinuity. The southern Araçuaí belt involves four major lithologic units: the Archean and Paleoproterozoic gneisses of the Mantiqueira Complex, the Pedra Dourada Charnockite, the Paleoproterozoic Borrachudos Granitoid, and the metavolcanosedimentary rocks of the Dom Silvério Group. The Dom Silvério Group occurs in a NNE-SSW striking belt and consists of a thick package of metapelitic rocks with intercalations of quartzites, amphibolites, meta-ultramafics, banded iron formations, gondites and marbles. All units of the southern Araçuaí belt underwent four syn-metamorphic phases of deformation in the course of the Brasiliano event. The first phase, synchronous to a regional amphibolite facies metamorphism, was associated to a general tectonic transport towards north along the left-lateral Dom Silvério shear zone and its low angle segment. The second and third phases represent progressive stages of a west directed shortening, which led to the development of local thrusts and pervasive folds in several scales. The fourth phase is extensional and reflects the collapse of the orogen.<br>A Faixa Araçuaí corresponde à porção ocidental externa do orógeno neoproterozóico Araçuaí-Congo Ocidental. Margeia a borda leste do Cráton do São Francisco e é separada do núcleo cristalino do orógeno pela descontinuidade geofísica de Abre Campo. A porção meridional da Faixa Araçuaí envolve quatro unidades litológicas principais: os ortognaisses arqueanos e paleoproterozóicos do Complexo Mantiqueira, os charnoquitos Pedra Dourada, os granitóides paleoproterozóicos da Suíte Borrachudos e as rochas metavulcanossedimentares do Grupo Dom Silvério. O Grupo Dom Silvério ocorre em uma faixa NNE-SSW e engloba um pacote de rochas metapelíticas com intercalações de quartzitos, anfibolitos, meta-ultramáficas, formações ferríferas, gonditos e mármores. Todas as unidades da porção meridional da Faixa Araçuaí foram envolvidas em quatro fases deformacionais sin-metamórficas no curso do Evento Brasiliano. A primeira fase, sincrônica a um metamorfismo regional de fácies anfibolito, associou-se a um transporte tectônico geral para norte ao longo da zona de cisalhamento sinistral de Dom Silvério e no segmento de baixo ângulo a ela conectado. A segunda e terceira fases representam estágios progressivos de um encurtamento com movimentação geral para oeste, com desenvolvimento de empurrões localizados e intenso dobramento em todas as escalas. A quarta fase é extensional e reflete o colapso do orógeno