Here we describe the first detailed catalog of gene expression in the developing lower urinary tract (LUT), including epithelial and mesenchymal portions of the developing bladder, urogenital sinus, urethra, and genital tubercle (GT) at E13 and E14. Top compartment-specific genes implicated by the microarray data were validated using whole-mount in situ hybridization (ISH) over the entire LUT. ...

INTRODUCTION The contribution of Gap junction beta-2 protein (GJB2) to the genetic load of deafness and its mutation spectra vary among different ethnic groups. OBJECTIVE In this study, the mutation spectrum and audiologic features of patients with GJB2 mutations were evaluated with a specific focus on residual hearing. METHODS An initial cohort of 588 subjects from 304 families with varyin...

(See the articles by Ogawa et al., on pages 782–8, and by Schleiss et al., on pages 789–98.) It has been 50 years since Smith [1] and Weller et al. [2] separately reported the isolation and propagation of a cytopath-ogenic virus from tissues of infants with cytomegalic inclusion disease. In the intervening half century, much has been learned about congenital cytomegalovirus (CMV) infection, as ...

Mutations in the gene GJB2, encoding the gap junction protein Connexin26 (Cx26), are the most prevalent cause of inherited hearing loss, and Cx26M34T was one of the first mutations linked to deafness (Kelsell et al., 1997; Nature 387, 80-83). We report the first characterization of the gating properties of M34T, which had previously been reported to be nonfunctional. Although homotypic mutant c...

Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic loss. Here, we investigate the genetic etiology of deafness two GJB2 GJB6 negative patients presenting pre-lingual, progressive, severe Methods Targeted exome sequencing (TES) using Next Generation Illumina Sequencing wa...

The deafness locus DFNB1 contains GJB2, the gene encoding connexin26 and GJB6, encoding connexin30, which appear to be coordinately regulated in the inner ear. In this work, we investigated the expression and function of connexin26 and connexin30 from postnatal day 5 to adult age in double transgenic Cx26(Sox10Cre) mice, which we obtained by crossing connexin26 floxed mice with a deleter Sox10-...

BACKGROUND Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS Whole exome sequencing was performed on 2 sisters with PDS and the...

Hearing loss is the most common inherited sensorial deficiency in humans; about 1 in 1000 children suffer from severe or profound hearing loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many populations; the c.35delG mutation is the most common in Caucasian populations. The frequency of the c.35delG mutation was es...

CONCLUSION We have demonstrated differences in cortical activation with language-related visual stimuli in patients who were profoundly deafened due to genetic mutations in GJB2 and SLC26A4. The differences in cortical processing patterns between these two cases may have been influenced by the differing clinical courses and pathogenesis of hearing loss due to genetic mutations. Our results sugg...