Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.

Item does not contain fulltextCHARGE syndrome is an autosomal dominant condition that is caused by mutations in the CHD7 gene. Few familial cases of this syndrome have been reported and these were characterized by a wide clinical variability. We here report on five CHD7 mutation positive families and comment on their clinical features. We observed somatic and germline mosaicism as well as parent-to-child transmission of non-mosaic CHD7 mutations as causes of familial CHARGE syndrome. In one family with two affected sibs a somatic mutation was identified in lymphocytes of a clinically unaffected parent (2520G > A in exon 8). This is the second report of somatic CHD7 mosaicism in an unaffected parent. In two further families with affected siblings, we could not detect the mutation in parental lymphocytes suggesting germline mosaicism. The previously reported clinical variability was strikingly present in all five families. We find that alterations in CHD7 can result in a very mild phenotype, characterized by only a few minor symptoms of the CHARGE syndrome clinical spectrum. Such a mild phenotype was present in two families that shared the same 6322G > A missense mutation. These two families showed parent-to-child transmission. Phenotypically milder forms of CHARGE syndrome have a higher risk of transmission to multiple family members

Utilização da multimistura durante a lactação e seus efeitos na produção e composição do leite materno de ratas Use of multimixture during lactation and its effects on production and composition of rat milk

A multimistura, composta por farelos, pós de folhas verdes, pós de sementes e pó da casca de ovo, vem sendo amplamente recomendada para aumentar a produção de leite materno, porém sem bases científicas que confirmem sua eficácia. Este estudo objetivou avaliar o desempenho lactacional de ratas alimentadas com dieta suplementada com 2% de multimistura (MM). Foram utilizados ratos fêmeas da linhagem Wistar lactantes com idade entre 90 e 100 dias de vida, divididos nos seguintes grupos (n=12): a) à base da dieta habitual do Estado do Rio de Janeiro (HERJ); b) dieta HERJ suplementada com 2% de multimistura (HERJ+MM); c) à base de caseína, com 12% de proteínas (CAS1); d) à base de caseína, com 20% de proteínas (CAS2). Foram determinados os macronutrientes proteína, lactose e lipídios e a produção de leite. O grupo HERJ+MM apresentou a menor produção de leite (p<0,05) e o menor conteúdo de lactose, quando comparado com os outros. Portanto, conclui-se que a performance lactacional das ratas cuja ração foi suplementada com 2% de multimistura apresentou-se diminuída.<br>The addition of multimixture, composed of bran, green leaves powder, seeds powder and eggshell powder, to the population's diet has been encouraged in Brazil, as a means to increase the production of breast milk, although without scientific bases that confirm its efficacy. The objective of this study was to evaluate the lactation performance of rats receiving ad libitum diet supplemented with 2% of multimixture (MM). Female Wistar-lactating rats of 90 to 100 days of age were divided into the following groups (n=12): a) fed the typical diet of the state of Rio de Janeiro, Brazil (HERJ); b) HERJ diet supplemented with 2% of multimixture (HERJ+MM); c) casein diet, with 12% of proteins (CAS1); d) casein diet, with 20% of proteins (CAS2). Lipid, lactose and protein concentrations and milk production were determined. The HERJ+MM group presented significantly lower milk production (p<0.05) and lower lactose content. In conclusion, there was a decrease in the lactation performance of rats which received diet supplemented with 2% of multimixture

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

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