Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

被引：0
|
作者：
Kálmán Tory
Dóra K Menyhárd
Stéphanie Woerner
Fabien Nevo
Olivier Gribouval
Andrea Kerti
Pál Stráner
Christelle Arrondel
Evelyne Huynh Cong
Tivadar Tulassay
Géraldine Mollet
András Perczel
Corinne Antignac
机构：
[1] Semmelweis University,First Department of Pediatrics
[2] Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163,Department of Genetics
[3] Laboratory of Hereditary Kidney Diseases,undefined
[4] Paris Descartes University–Sorbonne Paris Cité,undefined
[5] Imagine Institute,undefined
[6] Hungarian Academy of Sciences–Eötvös Loránd University (MTA-ELTE) Protein Modelling Research Group,undefined
[7] Hungarian Academy of Sciences–Semmelweis University (MTA-SE) Pediatrics and Nephrology Research Group,undefined
[8] Laboratory of Structural Chemistry and Biology,undefined
[9] Eötvös Loránd University,undefined
[10] Assistance Publique–Hôpitaux de Paris,undefined
[11] Necker Hospital,undefined
来源：
Nature Genetics | 2014年 / 46卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Kálmán Tory, Corinne Antignac and colleagues report that a variant of NPHS2, encoding p.Arg229Gln, causes nephrotic syndrome only when present in trans with particular mutations in the 3′ coding region of NPHS2. Mechanistically, the authors show that these 3′ mutations behave as recessive alleles when present with wild-type NPHS2 but exert a dominant-negative effect on the p.Arg229Gln variant, resulting in protein mislocalization.
引用
收藏
页码：299 / 304
页数：5
相关论文
共 50 条
  • [1] Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
    Tory, Kalman
    Menyhard, Dora K.
    Woerner, Stephanie
    Nevo, Fabien
    Gribouval, Olivier
    Kerti, Andrea
    Straner, Pal
    Arrondel, Christelle
    Evelyne Huynh Cong
    Tulassay, Tivadar
    Mollet, Geraldine
    Perczel, Andras
    Antignac, Corinne
    NATURE GENETICS, 2014, 46 (03) : 299 - +
  • [2] NPHS2-ASSOCIATED STEROID-RESISTANT NEPHROTIC SYNDROME IN A BOY WITH STEROID SULFATASE DEFICIENCY-X-LINKED RECESSIVE ICHTHYOSIS
    Prikhodina, Larisa
    Prikhodina, Larisa
    Lebedenkova, Marina
    Nikishina, Tatyana
    Lepaeva, Tatyana
    Stolyarevich, Ekaterina
    Povilaitite, Patricia
    Shatalov, Peter
    PEDIATRIC NEPHROLOGY, 2017, 32 (09) : 1724 - 1725
  • [3] NPHS2 Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum
    Bouchireb, Karim
    Boyer, Olivia
    Gribouval, Olivier
    Nevo, Fabien
    Huynh-Cong, Evelyne
    Moriniere, Vincent
    Campait, Raphaelle
    Ars, Elisabet
    Brackman, Damien
    Dantal, Jacques
    Eckart, Philippe
    Gigante, Maddalena
    Lipska-Zietkiewicz, Beata S.
    Liutkus, Aurelia
    Megarbane, Andre
    Mohsin, Nabil
    Ozaltin, Fatih
    Saleem, Moin A.
    Schaefer, Franz
    Soulami, Kenza
    Torra, Roser
    Garcelon, Nicolas
    Mollet, Geraldine
    Dahan, Karin
    Antignac, Corinne
    HUMAN MUTATION, 2014, 35 (02) : 178 - 186
  • [4] NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome
    Azocar, Marta
    Vega, Alvaro
    Farfan, Mauricio
    Cano, Francisco
    REVISTA CHILENA DE PEDIATRIA-CHILE, 2016, 87 (01): : 31 - 36
  • [5] A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome
    Sun, Hua
    Zhou, Wei
    Wang, Jian
    Yin, Lei
    Lu, Yizhou
    Fu, Qihua
    PATHOLOGY, 2009, 41 (07) : 661 - 665
  • [6] NPHS 2 Mutations in Children With Steroid-Resistant Nephrotic Syndrome
    Rahiminia, A.
    Otukesh, H.
    Ghazanfari, B.
    Fereshtehnejad, S. M.
    Salami, A.
    Mehdipor, L.
    Hoseini, R.
    Chalian, M.
    EUROPEAN JOURNAL OF MEDICAL RESEARCH, 2009, 14 : 60 - 60
  • [7] NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome
    Ameli, Sonbol
    Mazaheri, Mojgan
    Zare-Shahabadi, Ameneh
    Ozaltin, Fatih
    Asgarian, Fahimeh
    Monajemzadeh, Maryam
    Bazargani, Behnaz
    Ataei, Nematollah
    Hajezadeh, Niloofar
    Madani, Abbas
    Esfahani, Taher
    Isaian, Anna
    Zenker, Martin
    Rezaei, Nima
    NEFROLOGIA, 2012, 32 (05): : 674 - 676
  • [8] NPHS2 Mutations in Children With Steroid-Resistant Nephrotic Syndrome
    Otukesh, Hasan
    Ghazanfari, Behzad
    Fereshtehnejad, Seyed-Mohammad
    Bakhshayesh, Masoomeh
    Hashemi, Mehrdad
    Hoseini, Rozita
    Chalian, Majid
    Salami, Arezoo
    Mehdipor, Leila
    Rahiminia, Aysan
    IRANIAN JOURNAL OF KIDNEY DISEASES, 2009, 3 (02) : 99 - 102
  • [9] NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
    Nicolas Boute
    Olivier Gribouval
    Séverine Roselli
    France Benessy
    Hyunjoo Lee
    Arno Fuchshuber
    Karin Dahan
    Marie-Claire Gubler
    Patrick Niaudet
    Corinne Antignac
    Nature Genetics, 2000, 24 : 349 - 354
  • [10] Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence
    Kachmar, Jessica
    Boyer, Olivia
    Lipska-Zietkiewicz, Beata
    Moriniere, Vincent
    Gribouval, Olivier
    Heidet, Laurence
    Trautmann, Agnes
    Antignac, Corinne
    Schaefer, Franz
    Dorval, Guillaume
    PEDIATRIC NEPHROLOGY, 2024, 39 (01) : S296 - S297
12345