In an Italian mother and daughter with primary aldosteronism, Mulatero et al. (2012) identified heterozygosity for a missense mutation in the KCNJ5 gene (G151E; 600734.0005). Sukegawa, K., Song, X.-Q., Masuno, M., Fukao, T., Shimozawa, N., Fukuda, S., Isogai, K., Nishio, H., Matsuo, M., Tomatsu, S., Kondo, N., Orii, T. Customers who exceed their credit limits will be asked to pay in advance for additional products and/or services until the account is settled. Assignment of K(ATP)-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24. VWR shall under no circumstances whatsoever be liable to the customer (whether in contract, tort (including negligence), breach of statutory duty or otherwise), for any loss of profit, or any indirect or consequential loss arising in connection with the supply of products under this contract; and

Authorisation will be subject to the condition that the products are returned to VWR Customer Service Centre or to the manufacturer or other source and by the method advised by VWR.Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene. Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. In 2 of 22 aldosterone-producing adrenal adenomas (APAs) from unrelated patients with primary hyperaldosteronism (613677), Choi et al. (2011) identified a somatic G-to-A transition at position chr11:126,286,829 in the KCNJ5 gene, resulting in a gly151-to-arg (G151R) substitution.

Wilson et al. (1990) isolated and sequenced a 2.3-kb cDNA clone coding for the entire sequence of human IDS from an endothelial cell cDNA library. Analysis of the deduced 550-amino acid precursor indicated that IDS has a 25-amino acid amino-terminal signal sequence, followed by 8 amino acids that are removed from the proprotein. An internal proteolytic cleavage occurs to produce the mature 42- and 14-kD polypeptides observed in liver, kidney, lung, and placenta. A strong sequence homology was found with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. Northern blot analysis detected 3 major RNA species (5.7, 5.4, and 2.1 kb) and 1 minor species (1.4 kb). In a 12-year-old boy with MPS II, Sukegawa et al. (1992) identified a missense mutation in the IDS gene (300823.0001). Sukegawa, K., Tomatsu, S., Fukao, T., Iwata, H., Song, X.-Q., Yamada, Y., Fukuda, S., Isogai, K., Orii, T. The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).These terms and conditions cover all sales of products and services by VWR International Ltd (VWR) in the United Kingdom and any information and advice given whether charged for or not, unless otherwise agreed by VWR in writing. These terms and conditions apply to the exclusion of any other terms submitted by the customer or which are implied by any trade, custom, practice or course of dealing. Customer Accounts

Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism. Choi, M., Scholl, U. I., Yue, P., Bjorklund, P., Zhao, B., Nelson-Williams, C., Ji, W., Cho, Y., Patel, A., Men, C. J., Lolis, E., Wisgerhof, M. V., Geller, D. S., Mane, S., Hellman, P., Westin, G., Akerstrom, G., Wang, W., Carling, T., Lifton, R. P. Bondeson, M.-L., Dahl, N., Malmgren, H., Kleijer, W. J., Tonnesen, T., Carlberg, B.-M., Pettersson, U. Isogai et al. (1998) characterized 25 different small mutations in the IDS gene in a series of 43 Japanese patients with Hunter disease. As in other series, 3 different mutations in codon 468 of exon 9 were found: arg468-to-trp (300823.0012), arg468-to-gln (300823.0013), and arg468-to-leu (300823.0015). All 3 mutations were associated with a severe phenotype.

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Although the arg468-to-trp mutation (300823.0012) was associated with a mild form of MPS II, Whitley et al. (1993) found very severe MPS II (309900) manifestations in a boy who was found to have a mutation in the same codon: a G-to-A transition at nucleotide 1403 of the IDS gene resulted in substitution of glutamine for arginine-468 (R468Q). In a note added in proof, it was reported that fibroblast cultures showed a large acrocentric supernumerary marker chromosome, which presumably was responsible for the quantitatively and qualitatively atypical features of the proband's face. The proband died at the age of 23 months. Perry et al. (2008) identified prominent Girk4 expression mouse hypothalamus, with most pronounced expression in the ventromedial, paraventricular, and arcuate nuclei, neuron populations implicated in energy homeostasis. Any liability accepted by VWR under this contract is in lieu of any terms implied by law as to the quality or fitness for any particular purpose of the products and/or the standard of the services and all such implied terms are, to the fullest extent permitted by law, excluded from the contract between VWR and the customer. The customer shall indemnify VWR against any claims made against VWR by the customer’s employees, contractors or agents. Intellectual property rights Wilson et al. (1991) found a deletion or gene rearrangement in 7 of 23 patients with mucopolysaccharidosis type II (Hunter syndrome; 309900) of Australian and British origin. In 2 of 14 unrelated German MPS II patients, structural alteration of the IDS gene was found by Southern analysis using an IDS cDNA clone as a probe. In one of these patients, a severely affected male, no Southern fragments were detected. Faust, C. J., Verkerk, A. J. M. H., Wilson, P. J., Morris, C. P., Hopwood, J. J., Oostra, B. A., Herman, G. E.