A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

BACKGROUND: Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function. One earlier report describes mutations in GPR98 (VLGR1) in four families segregating this phenotype. OBJECTIVE: To detect the disease-causing mutation in an Iranian family segregating USH2C. In this family, five members had a phenotype compatible with Usher syndrome, and two others had nonsyndromic hearing loss. METHODS: Mutation analysis of all 90 coding exons of GPR98. RESULTS: Consistent with these clinical findings, the five subjects with USH carried a haplotype linked to the USH2C locus, whereas the two subjects with nonsyndromic hearing loss did not. We identified a new mutation in GPR98 segregating with USH2C in this family. The mutation is a large deletion g.371657_507673del of exons 84 and 85, presumably leading to a frameshift. CONCLUSIONS: A large GPR98 deletion of 136 017 bp segregates with USH2C in an Iranian family. To our knowledge, this is only the second report of a GPR98 mutation, and the first report on male subjects with USH2C and a GPR98 mutation.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Hearing loss is the most frequent sensorineural disorder affecting 1 in 1000 newborns. In more than half of these babies, the hearing loss is inherited. Hereditary hearing loss is a very heterogeneous trait with about 100 gene localizations and 44 gene identifications for non-syndromic hearing loss. Transmembrane channel-like gene 1 (TMC1) has been identified as the disease-causing gene for autosomal dominant and autosomal recessive non-syndromic hearing loss at the DFNA36 and DFNB7/11 loci, respectively. To date, 2 dominant and 18 recessive TMC1 mutations have been reported as the cause of hearing loss in 34 families. In this report, we describe linkage to DFNA36 and DFNB7/11 in 1 family with dominant and 10 families with recessive non-syndromic sensorineural hearing loss. In addition, mutation analysis of TMC1 was performed in 51 familial Turkish patients with autosomal recessive hearing loss. TMC1 mutations were identified in seven of the families segregating recessive hearing loss. The pathogenic variants we found included two known mutations, c.100C>T and c.1165C>T, and four new mutations, c.2350C>T, c.776+1G>A, c.767delT and c.1166G>A. The absence of TMC1 mutations in the remaining six linked families implies the presence of mutations outside the coding region of this gene or alternatively at least one additional deafness-causing gene in this region. The analysis of copy number variations in TMC1 as well as DNA sequencing of 15 additional candidate genes did not reveal any proven pathogenic changes, leaving both hypotheses open.

Modeling the effects of assimilable nitrogen and temperature on fermentation kinetics in enological conditions.

We propose a dynamic model of alcoholic fermentation in wine-making conditions. In this model, the speed at which CO(2) is released is related to the effects of the main factors involved in fermentation in wine-making conditions: temperature (which can vary within a predefined range) and nitrogen additions (which must not exceed the maximal authorized level). The resulting model consists of ordinary differential equations including numerous parameters that need to be identified and important interactions between explicative variables. These parameters were identified by uncoupling the effects of variables during specific experiments. The results were validated on another series of experiments in different conditions.

Plants used in home medicine in the Zenta River basin, Northwest Argentina.

The use of herbal pharmacopoeia in the domestic life of a rural community in the west of the Orán Department, Salta Province, Argentina is reported in this article. One hundred and seventeen plant species belonging to 52 families and 98 different genera were included. Their vernacular name, popular use, administration, used parts and ways of obtaining are given. It is concluded that home medicine constitutes a relevant resource in the area.