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Nephrotic Syndrome - CRB2 Associated

MedGen UID:
886377
•Concept ID:
C4054392
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the CRB2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - CRB2 Associated

Recent clinical studies

Etiology

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Tessier A, Roux N, Boutaud L, Lunel E, Hakkakian L, Parisot M, Garfa-Traoré M, Ichkou A, Elkhartoufi N, Bole C, Nitschke P, Amiel J, Martinovic J, Encha-Razavi F, Attié-Bitach T, Thomas S
Acta Neuropathol Commun 2023 Feb 20;11(1):29. doi: 10.1186/s40478-023-01519-8. PMID: 36803301Free PMC Article
A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis.
Awazu M, Yamada M, Asada N, Hashiguchi A, Kosaki K, Matsumura K
CEN Case Rep 2022 Feb;11(1):116-119. Epub 2021 Aug 25 doi: 10.1007/s13730-021-00640-8. PMID: 34435324Free PMC Article

Diagnosis

A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis.
Awazu M, Yamada M, Asada N, Hashiguchi A, Kosaki K, Matsumura K
CEN Case Rep 2022 Feb;11(1):116-119. Epub 2021 Aug 25 doi: 10.1007/s13730-021-00640-8. PMID: 34435324Free PMC Article
Association of crumbs homolog-2 with mTORC1 in developing podocyte.
Hamano S, Nishibori Y, Hada I, Mikami N, Ito-Nitta N, Fukuhara D, Kudo A, Xiao Z, Nukui M, Patrakka J, Tryggvason K, Yan K
PLoS One 2018;13(8):e0202400. Epub 2018 Aug 20 doi: 10.1371/journal.pone.0202400. PMID: 30125302Free PMC Article
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E
Clin Genet 2016 Dec;90(6):540-544. Epub 2016 May 2 doi: 10.1111/cge.12764. PMID: 26925547
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
Ebarasi L, Ashraf S, Bierzynska A, Gee HY, McCarthy HJ, Lovric S, Sadowski CE, Pabst W, Vega-Warner V, Fang H, Koziell A, Simpson MA, Dursun I, Serdaroglu E, Levy S, Saleem MA, Hildebrandt F, Majumdar A
Am J Hum Genet 2015 Jan 8;96(1):153-61. Epub 2014 Dec 31 doi: 10.1016/j.ajhg.2014.11.014. PMID: 25557779Free PMC Article

Prognosis

Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.
Möller-Kerutt A, Schönhoff B, Rellmann Y, George B, Braun DA, Pavenstädt H, Weide T
Life Sci Alliance 2023 Mar;6(3) Epub 2022 Dec 22 doi: 10.26508/lsa.202201649. PMID: 36549870Free PMC Article

Clinical prediction guides

Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.
Möller-Kerutt A, Schönhoff B, Rellmann Y, George B, Braun DA, Pavenstädt H, Weide T
Life Sci Alliance 2023 Mar;6(3) Epub 2022 Dec 22 doi: 10.26508/lsa.202201649. PMID: 36549870Free PMC Article
A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis.
Awazu M, Yamada M, Asada N, Hashiguchi A, Kosaki K, Matsumura K
CEN Case Rep 2022 Feb;11(1):116-119. Epub 2021 Aug 25 doi: 10.1007/s13730-021-00640-8. PMID: 34435324Free PMC Article
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E
Clin Genet 2016 Dec;90(6):540-544. Epub 2016 May 2 doi: 10.1111/cge.12764. PMID: 26925547

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