A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease. (3rd April 2014)
- Record Type:
- Journal Article
- Title:
- A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease. (3rd April 2014)
- Main Title:
- A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease
- Authors:
- Kurashige, M.
Hanaoka, K.
Imamura, M.
Udagawa, T.
Kawaguchi, Y.
Hasegawa, T.
Hosoya, T.
Yokoo, T.
Maeda, S. - Abstract:
- <abstract abstract-type="main" id="cge12372-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12372-para-0001">To elucidate the genotypic and phenotypic characteristics of autosomal dominant polycystic kidney disease (ADPKD) in Japanese populations, we performed a comprehensive search for mutations in <italic>PKD1</italic> and <italic>PKD2</italic> in 180 Japanese ADPKD patients from 161 unrelated families. We identified 112 (89 <italic>PKD1</italic> and 23 <italic>PKD2</italic>) mutations within 135 families. Patients with <italic>PKD2</italic> mutations account for 23.6% of all Japanese ADPKD families in this study. Seventy‐five out of the 112 mutations have not been reported previously. The estimated glomerular filtration rate (eGFR) decline was significantly faster in patients with <italic>PKD1</italic> mutations than in those with <italic>PKD2</italic> mutations (−3.25 and −2.08 ml min<sup>−1</sup> year<sup>−1</sup> for <italic>PKD1</italic> and <italic>PKD2</italic>, respectively, p &lt; 0.01). These results indicate that mutations within <italic>PKD1</italic> and <italic>PKD2</italic> can be linked to most of the cases of Japanese ADPKD, and the renal function decline was faster in patients with <italic>PKD1</italic> mutations than in those with <italic>PKD2</italic> mutations also in the Japanese ADPKD. We also found that <italic>PKD2</italic> mutations were more frequent in Japanese ADPKD than that in European or American ADPKD.</p><abstract abstract-type="main" id="cge12372-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12372-para-0001">To elucidate the genotypic and phenotypic characteristics of autosomal dominant polycystic kidney disease (ADPKD) in Japanese populations, we performed a comprehensive search for mutations in <italic>PKD1</italic> and <italic>PKD2</italic> in 180 Japanese ADPKD patients from 161 unrelated families. We identified 112 (89 <italic>PKD1</italic> and 23 <italic>PKD2</italic>) mutations within 135 families. Patients with <italic>PKD2</italic> mutations account for 23.6% of all Japanese ADPKD families in this study. Seventy‐five out of the 112 mutations have not been reported previously. The estimated glomerular filtration rate (eGFR) decline was significantly faster in patients with <italic>PKD1</italic> mutations than in those with <italic>PKD2</italic> mutations (−3.25 and −2.08 ml min<sup>−1</sup> year<sup>−1</sup> for <italic>PKD1</italic> and <italic>PKD2</italic>, respectively, p &lt; 0.01). These results indicate that mutations within <italic>PKD1</italic> and <italic>PKD2</italic> can be linked to most of the cases of Japanese ADPKD, and the renal function decline was faster in patients with <italic>PKD1</italic> mutations than in those with <italic>PKD2</italic> mutations also in the Japanese ADPKD. We also found that <italic>PKD2</italic> mutations were more frequent in Japanese ADPKD than that in European or American ADPKD.</p> </abstract> … (more)
- Is Part Of:
- Clinical genetics. Volume 87:Number 3(2015:Mar.)
- Journal:
- Clinical genetics
- Issue:
- Volume 87:Number 3(2015:Mar.)
- Issue Display:
- Volume 87, Issue 3 (2015)
- Year:
- 2015
- Volume:
- 87
- Issue:
- 3
- Issue Sort Value:
- 2015-0087-0003-0000
- Page Start:
- 266
- Page End:
- 272
- Publication Date:
- 2014-04-03
- Subjects:
- Medical genetics -- Periodicals
616.0420 - Journal URLs:
- http://www.blackwell-synergy.com/loi/cge ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1111/cge.12372 ↗
- Languages:
- English
- ISSNs:
- 0009-9163
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 3286.287000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store - Ingest File:
- 3727.xml