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Nephrotic Syndrome - LMX1B Associated

MedGen UID:
884690
•Concept ID:
C4054378
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the LMX1B gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - LMX1B Associated

Recent clinical studies

Etiology

Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M, Štolbová Š, Seeman T, Cinek O, Malina M, Šimánková N, Průhová Š, Zieg J
Pediatr Nephrol 2018 Aug;33(8):1347-1363. Epub 2018 Jun 4 doi: 10.1007/s00467-018-3950-2. PMID: 29869118
The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism.
Harendza S, Stahl RA, Schneider A
Cell Mol Biol Lett 2009;14(4):679-91. Epub 2009 Jun 27 doi: 10.2478/s11658-009-0026-0. PMID: 19562271Free PMC Article
Kidney disease in nail-patella syndrome.
Lemley KV
Pediatr Nephrol 2009 Dec;24(12):2345-54. Epub 2008 Jun 6 doi: 10.1007/s00467-008-0836-8. PMID: 18535845Free PMC Article
Molecular basis of steroid-resistant nephrotic syndrome.
Antignac C
Nefrologia 2005;25 Suppl 2:25-8. PMID: 16050398

Diagnosis

Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M, Štolbová Š, Seeman T, Cinek O, Malina M, Šimánková N, Průhová Š, Zieg J
Pediatr Nephrol 2018 Aug;33(8):1347-1363. Epub 2018 Jun 4 doi: 10.1007/s00467-018-3950-2. PMID: 29869118
LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
Andeen NK, Schleit J, Blosser CD, Dorschner MO, Hisama FM, Smith KD
Am J Kidney Dis 2018 Aug;72(2):296-301. Epub 2017 Dec 12 doi: 10.1053/j.ajkd.2017.09.023. PMID: 29246420
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M
Pediatr Nephrol 2017 Oct;32(10):1845-1850. Epub 2016 Jul 23 doi: 10.1007/s00467-016-3462-x. PMID: 27450397
Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, Fujimoto S, Harita Y, Hisano S, Yoshiura K, Nunoi H
Nephrology (Carlton) 2016 Sep;21(9):765-73. doi: 10.1111/nep.12666. PMID: 26560070

Therapy

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K
BMC Nephrol 2017 Mar 23;18(1):100. doi: 10.1186/s12882-017-0516-7. PMID: 28335748Free PMC Article
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment.
Proesmans W, Van Dyck M, Devriendt K
Nephrol Dial Transplant 2009 Apr;24(4):1335-8. Epub 2009 Jan 15 doi: 10.1093/ndt/gfn725. PMID: 19147669
Molecular basis of steroid-resistant nephrotic syndrome.
Antignac C
Nefrologia 2005;25 Suppl 2:25-8. PMID: 16050398

Prognosis

Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508
LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
Andeen NK, Schleit J, Blosser CD, Dorschner MO, Hisama FM, Smith KD
Am J Kidney Dis 2018 Aug;72(2):296-301. Epub 2017 Dec 12 doi: 10.1053/j.ajkd.2017.09.023. PMID: 29246420
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K
BMC Nephrol 2017 Mar 23;18(1):100. doi: 10.1186/s12882-017-0516-7. PMID: 28335748Free PMC Article
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M
Pediatr Nephrol 2017 Oct;32(10):1845-1850. Epub 2016 Jul 23 doi: 10.1007/s00467-016-3462-x. PMID: 27450397
Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, Fujimoto S, Harita Y, Hisano S, Yoshiura K, Nunoi H
Nephrology (Carlton) 2016 Sep;21(9):765-73. doi: 10.1111/nep.12666. PMID: 26560070

Clinical prediction guides

Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508
A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.
Morimoto N, Nagahama K, Mori T, Fujimaru T, Tsuura Y, Terai A, Tanabe M, Otani M, Shioji S, Hirasawa S, Aki S, Aoyagi M, Sohara E, Uchida S, Tanaka H
Nephron 2021;145(6):776-782. Epub 2021 Aug 26 doi: 10.1159/000518423. PMID: 34515165
LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
Andeen NK, Schleit J, Blosser CD, Dorschner MO, Hisama FM, Smith KD
Am J Kidney Dis 2018 Aug;72(2):296-301. Epub 2017 Dec 12 doi: 10.1053/j.ajkd.2017.09.023. PMID: 29246420
The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism.
Harendza S, Stahl RA, Schneider A
Cell Mol Biol Lett 2009;14(4):679-91. Epub 2009 Jun 27 doi: 10.2478/s11658-009-0026-0. PMID: 19562271Free PMC Article

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