{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T20:53:38Z","timestamp":1761512018363},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,29]],"date-time":"2004-10-29T00:00:00Z","timestamp":1099008000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2004,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold><jats:sc>objective\u2002<\/jats:sc><\/jats:bold> Familial hyperaldosteronism type\u00a0II (FH\u2010II) is characterized by inheritance of primary aldosteronism (PAL) but, unlike FH\u2010I, is not glucocorticoid remediable and not associated with the hybrid <jats:italic>CYP11B1\/CYP11B2<\/jats:italic> gene mutation. Analysis of two pedigrees previously demonstrated linkage of FH\u2010II with a locus at chromosome\u00a07p22. We sought to determine whether mutations in the exons or intron\/exon boundaries in <jats:italic>PRKAR1B<\/jats:italic> (encoding protein kinase\u00a0A regulatory subunit R1\u2010beta), which resides within the linked locus, are associated with FH\u2010II.<\/jats:p><jats:p><jats:bold><jats:sc>methods\u2002<\/jats:sc><\/jats:bold> Primers enabling sequencing of all exons and intron\/exon boundaries were designed by BLAT search using known mRNA sequence, and comparison with an orthologous mouse gene. Sequences from four affected and two unaffected subjects from an Australian family with FH\u2010II demonstrating linkage at 7p22 were compared with published sequences.<\/jats:p><jats:p><jats:bold><jats:sc>results\u2002<\/jats:sc><\/jats:bold> A probable two\u2010nucleotide GenBank sequence error, resulting in an amino acid change, was detected. Two of seven single nucleotide polymorphisms (SNPs) identified were in exons and five in introns. Neither exon\u2010localized SNP resulted in an amino acid change. All intron\u2010localized SNPs were at least 16 nucleotides from the closest intron\/exon boundary and therefore unlikely to interfere with gene splicing. Importantly, none of the identified SNPs was exclusively associated with affectation status.<\/jats:p><jats:p><jats:bold><jats:sc>conclusions\u2002<\/jats:sc><\/jats:bold> Mutations in the exons or intron\/exon boundaries of <jats:italic>PRKAR1B<\/jats:italic> do not appear to be responsible for FH\u2010II in this family, but a mutation in the promoter or remaining intronic or 5\u2032 or 3\u2032 untranslated regions could be. Alternatively, a mutation within another gene residing at the 7p22 locus may be responsible.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2004.02155.x","type":"journal-article","created":{"date-parts":[[2004,12,3]],"date-time":"2004-12-03T09:34:20Z","timestamp":1102066460000},"page":"716-723","source":"Crossref","is-referenced-by-count":13,"title":["Genomic structure of the human gene for protein kinase\u00a0A regulatory subunit R1\u2010beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type\u00a0II in a large affected kindred"],"prefix":"10.1111","volume":"61","author":[{"given":"Martin S.","family":"Elphinstone","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard D.","family":"Gordon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albertina","family":"So","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yvette W. 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