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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
Kidney International, Volume 104, No. 2, Year 2023
Notification
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Description
Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted and whole exome sequencing identified disease-causing variants in 600 patients from 496 families with a detection rate of 71%. Of 788 pathogenic variants, 40 known ciliopathy genes were identified. However, the majority of patients (53%) bore biallelic pathogenic variants in NPHP1. NPH-causing gene alterations affected all ciliary modules defined by structural and/or functional subdomains. Seventy six percent of these patients had progressed to kidney failure, of which 18% had an infantile form (under five years) and harbored variants affecting the Inversin compartment or intraflagellar transport complex A. Forty eight percent of patients showed a juvenile (5-15 years) and 34% a late-onset disease (over 15 years), the latter mostly carrying variants belonging to the Transition Zone module. Furthermore, while more than 85% of patients with an infantile form presented with extra-kidney manifestations, it only concerned half of juvenile and late onset cases. Eye involvement represented a predominant feature, followed by cerebellar hypoplasia and other brain abnormalities, liver and skeletal defects. The phenotypic variability was in a large part associated with mutation types, genes and corresponding ciliary modules with hypomorphic variants in ciliary genes playing a role in early steps of ciliogenesis associated with juvenile-to-late onset NPH forms. Thus, our data confirm a considerable proportion of late-onset NPH suggesting an underdiagnosis in adult chronic kidney disease. © 2023 International Society of Nephrology
Authors & Co-Authors
Filhol, Emilie
France, Paris
Inserm
Moriniére, Vincent
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Krug, Pauline
France, Paris
Inserm
France, Paris
Hôpital Necker Enfants Malades
Tory, Kálmán
Hungary, Budapest
Semmelweis Egyetem
Boyer, Olivia Gillion
France, Paris
Hôpital Necker Enfants Malades
Servais, Aude
France, Paris
Hôpital Necker Enfants Malades
Salomon, Rémi D.Sign©mi
France, Paris
Inserm
France, Paris
Hôpital Necker Enfants Malades
Benmerah, Alexandre
France, Paris
Inserm
Heidet, Laurence
France, Paris
Inserm
France, Paris
Hôpital Necker Enfants Malades
Garcelon, Nicolas
France, Paris
Inserm
France, Paris
Centre de Recherche Des Cordeliers
Antignac, Corinne
France, Paris
Inserm
Zaidan, Mohamad Waznul Adly Mohd
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Le Kremlin-bicetre
Hopital de Bicetre
Saunier, Sophie
France, Paris
Inserm
Attié-Bitach, Tania
Unknown Affiliation
Rozet, Jean Michel
Unknown Affiliation
Frishberg, Yaacov
Unknown Affiliation
Llanas, Brigitte
Unknown Affiliation
Mohsin, Nabil
Unknown Affiliation
MacHer, Marie Alice
Unknown Affiliation
Philip, Nicole
Unknown Affiliation
Baudouin, Véronique
Unknown Affiliation
Brackman, Damien
Unknown Affiliation
Loirat, Chantal
Unknown Affiliation
Charbit, Marina
Unknown Affiliation
Elting, Mariet W.
Unknown Affiliation
Dêschenes, Georges
Unknown Affiliation
Gropman, Andrea L.
Unknown Affiliation
Gagnadoux, Marie France
Unknown Affiliation
Cochat, Pierre
Unknown Affiliation
Ranchin, Bruno
Unknown Affiliation
Bensman, Albert S.
Unknown Affiliation
Guerrot, Anne Marie
Unknown Affiliation
Knebelmann, Bertrand
Unknown Affiliation
Bilge, Ilmay
Unknown Affiliation
Burtey, Stéphane J.
Unknown Affiliation
Morin, Denis
Unknown Affiliation
Dollfus, Hélène J.
Unknown Affiliation
Hamel, Christian P.
Unknown Affiliation
Bieth, Éric
Unknown Affiliation
Goodship, Judith A.
Unknown Affiliation
Roussey-Kesler, Gwénaëlle
Unknown Affiliation
Nivet, Hubert
Unknown Affiliation
Bessenay, Lucie
Unknown Affiliation
Benoît, Stéphane
Unknown Affiliation
Dubot, Philippe
Unknown Affiliation
Fila, Marc
Unknown Affiliation
Giuliano, Fabienne
Unknown Affiliation
Iftene, Daouia
Unknown Affiliation
Kessler, Michèle F.
Unknown Affiliation
Leclerc, Anne Laure
Unknown Affiliation
Milford, David V.
Unknown Affiliation
Neuhaus, Thomas J.
Unknown Affiliation
Odent, Sylvie
Unknown Affiliation
Eckart, Philippe
Unknown Affiliation
Chauveau, Dominique
Unknown Affiliation
Niaudet, Patrick
Unknown Affiliation
Repetto, Horacio A.
Unknown Affiliation
Taque, Sophie
Unknown Affiliation
Bacchetta, Justine
Unknown Affiliation
Barnérias, Christine
Unknown Affiliation
Ben Maïz, Hédi B.
Unknown Affiliation
Ben Moussa, Fatma B.
Unknown Affiliation
Boffa, Jean Jacques
Unknown Affiliation
Bouchireb, Karim
Unknown Affiliation
Bourdat-Michel, Guylhène
Unknown Affiliation
Boute, Odile
Unknown Affiliation
Brochard, Karine
Unknown Affiliation
Chafai El Alaoui, Siham Chafai
Unknown Affiliation
Piètrement, Christine
Unknown Affiliation
Richer, Christine
Unknown Affiliation
Legendre, Christophe M.
Unknown Affiliation
Dahan, Karin In
Unknown Affiliation
Constantinou-Deltas, Constantinos D.
Unknown Affiliation
Diouf, Boucar A.
Unknown Affiliation
Cassuto, Élisabeth
Unknown Affiliation
Chaussenot, Annabelle
Unknown Affiliation
Bouissou, François
Unknown Affiliation
Decramer, S.
Unknown Affiliation
Bottani, Armand
Unknown Affiliation
Hummel, Aurélie
Unknown Affiliation
Karras, Alexandre
Unknown Affiliation
Mariat, Christophe
Unknown Affiliation
Champion, Gérard
Unknown Affiliation
Chassaing, Nicolas
Unknown Affiliation
Mignot, Cyril
Unknown Affiliation
Dehoux, Laurène
Unknown Affiliation
Lacombe, Didier
Unknown Affiliation
Hannedouche, Thierry P.
Unknown Affiliation
Mérieau, Élodie
Unknown Affiliation
Démurger, Florence
Unknown Affiliation
Emma, F.
Unknown Affiliation
Cartault, François
Unknown Affiliation
Godefroid, Nathalie
Unknown Affiliation
Guigonis, Vincent
Unknown Affiliation
Groothoff, Jaap W.
Unknown Affiliation
Jourde-Chiche, Noémie
Unknown Affiliation
El-Karoui, Khalil
Unknown Affiliation
Krid, Saoussen
Unknown Affiliation
Lavocat, Marie Pierre
Unknown Affiliation
Leroy, Valérie
Unknown Affiliation
Thibaudin, Lise
Unknown Affiliation
Gwanmesia, Lorraine M.
Unknown Affiliation
Bürglen, Lydie
Unknown Affiliation
Nizon, Mathilde
Unknown Affiliation
Nobili, François
Unknown Affiliation
Devuyst, Olivier
Unknown Affiliation
Parvex, Paloma
Unknown Affiliation
Vanhille, Phillippe
Unknown Affiliation
Galichon, Pierre
Unknown Affiliation
Touraine, Renaud Laurian
Unknown Affiliation
Rigothier, Claire
Unknown Affiliation
El-Chehadeh, Salima
Unknown Affiliation
Samaille, Charlotte
Unknown Affiliation
Cloarec, Sylvie
Unknown Affiliation
Vargas-Poussou, Rosa
Unknown Affiliation
Plaisier, Emmanuelle M.
Unknown Affiliation
Bérard, Étienne
Unknown Affiliation
Fakhouri, Fadi
Unknown Affiliation
Louillet, Férielle
Unknown Affiliation
Fischbach, Michael
Unknown Affiliation
Foliguet, Bernard
Unknown Affiliation
Gérard, Marion
Unknown Affiliation
Gilbert, Brigitte
Unknown Affiliation
Glotz, Denis
Unknown Affiliation
Grünfeld, Jean Pierre
Unknown Affiliation
Haye, Damien
Unknown Affiliation
Hildebrandt, Friedhelm
Unknown Affiliation
Tack, Ivan
Unknown Affiliation
Jacquemont, Marie Line
Unknown Affiliation
Fabre-Teste, Jennifer
Unknown Affiliation
Knoers, Nine V.A.M.
Unknown Affiliation
Konrad, Martin A.
Unknown Affiliation
Lachaux, Alain
Unknown Affiliation
Landru, Isabelle
Unknown Affiliation
Lobbedez, Thierry
Unknown Affiliation
Pinson, Lucile
Unknown Affiliation
Rio, Marlène
Unknown Affiliation
Gübler, Marie Claire
Unknown Affiliation
Harambat, Jérǒme
Unknown Affiliation
Mourad, Georges J.
Unknown Affiliation
Boespflüg-Tanguy, Odile
Unknown Affiliation
Dunand, Olivier
Unknown Affiliation
Ouali, Nacéra
Unknown Affiliation
Malvezzi, Paolo M.
Unknown Affiliation
Pelletier, Solenne
Unknown Affiliation
Petersen, Michael Bjørn
Unknown Affiliation
Billette-De-Villemeur, Thierry
Unknown Affiliation
Leheup, Bruno P.
Unknown Affiliation
Dossier, Claire
Unknown Affiliation
Djeddi, Djamal Dine
Unknown Affiliation
Sarnacki, Sabine
Unknown Affiliation
Saidani, Messaoud
Unknown Affiliation
Trachtman, Howard A.
Unknown Affiliation
Tsimaratos, Michel
Unknown Affiliation
van Damme-Lombaerts, Rita
Unknown Affiliation
Willems, Marjolaine
Unknown Affiliation
Zaloszyc, Ariane
Unknown Affiliation
Statistics
Citations: 3
Authors: 157
Affiliations: 7
Identifiers
Doi:
10.1016/j.kint.2023.05.007
ISSN:
00852538
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Noncommunicable Diseases
Study Design
Cohort Study