PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion

We report a patient with adult‐onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of NPHP1 and a heterozygous PKD1 mutation. We suggest that the PKD1 mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for simil...

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Detalles Bibliográficos
Autores principales: Watanabe, Saki, Ino, Jun, Fujimaru, Takuya, Taneda, Sekiko, Akihisa, Taro, Makabe, Shiho, Kataoka, Hiroshi, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi, Nitta, Kosaku, Mochizuki, Toshio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389502/
https://www.ncbi.nlm.nih.gov/pubmed/30847201
http://dx.doi.org/10.1002/ccr3.1947
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author Watanabe, Saki
Ino, Jun
Fujimaru, Takuya
Taneda, Sekiko
Akihisa, Taro
Makabe, Shiho
Kataoka, Hiroshi
Mori, Takayasu
Sohara, Eisei
Uchida, Shinichi
Nitta, Kosaku
Mochizuki, Toshio
author_facet Watanabe, Saki
Ino, Jun
Fujimaru, Takuya
Taneda, Sekiko
Akihisa, Taro
Makabe, Shiho
Kataoka, Hiroshi
Mori, Takayasu
Sohara, Eisei
Uchida, Shinichi
Nitta, Kosaku
Mochizuki, Toshio
author_sort Watanabe, Saki
collection PubMed
description We report a patient with adult‐onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of NPHP1 and a heterozygous PKD1 mutation. We suggest that the PKD1 mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for similar possible epistatic effects is needed.
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spelling pubmed-63895022019-03-07 PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion Watanabe, Saki Ino, Jun Fujimaru, Takuya Taneda, Sekiko Akihisa, Taro Makabe, Shiho Kataoka, Hiroshi Mori, Takayasu Sohara, Eisei Uchida, Shinichi Nitta, Kosaku Mochizuki, Toshio Clin Case Rep Case Reports We report a patient with adult‐onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of NPHP1 and a heterozygous PKD1 mutation. We suggest that the PKD1 mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for similar possible epistatic effects is needed. John Wiley and Sons Inc. 2019-01-09 /pmc/articles/PMC6389502/ /pubmed/30847201 http://dx.doi.org/10.1002/ccr3.1947 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Watanabe, Saki
Ino, Jun
Fujimaru, Takuya
Taneda, Sekiko
Akihisa, Taro
Makabe, Shiho
Kataoka, Hiroshi
Mori, Takayasu
Sohara, Eisei
Uchida, Shinichi
Nitta, Kosaku
Mochizuki, Toshio
PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion
title PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion
title_full PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion
title_fullStr PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion
title_full_unstemmed PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion
title_short PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion
title_sort pkd1 mutation may epistatically ameliorate nephronophthisis progression in patients with nphp1 deletion
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389502/
https://www.ncbi.nlm.nih.gov/pubmed/30847201
http://dx.doi.org/10.1002/ccr3.1947
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