Correlation between Clinical Phenotypes and X-inactivation Patterns in Six Female Carriers with Heterozygote Vasopressin Type 2 Receptor Gene Mutations

• SATOH Mari

  First Department of Pediatrics, Toho University School of Medicine

• OGIKUBO Sayaka

  First Department of Pediatrics, Toho University School of Medicine Okinaka Memorial Institute for Medical Research

• YOSHIZAWA-OGASAWARA Atsuko

  First Department of Pediatrics, Toho University School of Medicine Okinaka Memorial Institute for Medical Research

抄録

About 90% of patients with congenital nephrogenic diabetes insipidus (NDI) have vasopressin type 2 receptor (V2R) gene mutations that are inherited in an X-linked recessive manner. Although most female carriers are asymptomatic, some female carriers show polydipsia and polyuria. The reason why female carriers show NDI symptoms is explained by skewed X-inactivation. We studied X-inactivation patterns of six female carriers with heterozygote V2R gene mutations. The X-inactivation pattern in peripheral blood leukocytes was examined using methylation analysis of the polymorphic CAG repeat in the androgen receptor gene. Two asymptomatic female carriers showed random X-inactivation (61.9% and 60.7%). Skewed X-inactivation patterns (71.6%, 79.4%, and 91.2%) occurring preferentially to normal X alleles were recognized in three female carriers who showed clinical NDI symptoms. However, in one female carrier who showed clinical NDI symptoms, random X-inactivation (55.4%) was recognized. In conclusion, the clinical NDI phenotypes may correlate with the X-inactivation patterns in female carriers with heterozygote V2R gene mutations. However, in some female carriers, we cannot predict the clinical phenotypes by the evaluation of the X-inactivation patterns in peripheral blood leukocytes, because X-inactivation ratios within an individual are sometimes different between tissues.<br>

収録刊行物

• Endocrine Journal

  Endocrine Journal 55 (2), 277-284, 2008

  一般社団法人 日本内分泌学会

キーワード

• Nephrogenic diabetes insipidus
• Vasopressin receptor
• X-inactivation
• Female carrier

詳細情報

• CRID: 1390001206298876288
• NII論文ID: 10021265461
• NII書誌ID: AA10901436
• DOI: 10.1507/endocrj.k07-083
• ISSN: 13484540
• ISSN: 09188959
• Web Site: http://www.jstage.jst.go.jp/article/endocrj/55/2/55_K07-083/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2008234279
• 本文言語コード: en
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