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
Descripción
Sumario: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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