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Nephrotic Syndrome - LAMB2 Associated

MedGen UID:
881365
•Concept ID:
C4054379
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the LAMB2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - LAMB2 Associated

Professional guidelines

PubMed

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C
J Am Soc Nephrol 2010 Jul;21(7):1209-17. Epub 2010 May 27 doi: 10.1681/ASN.2009121309. PMID: 20507940Free PMC Article

Recent clinical studies

Etiology

Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA
Mol Genet Genomic Med 2023 Sep;11(9):e2201. Epub 2023 May 19 doi: 10.1002/mgg3.2201. PMID: 37204080Free PMC Article
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
Genetics of congenital and infantile nephrotic syndrome.
Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA
World J Pediatr 2019 Apr;15(2):198-203. Epub 2019 Feb 5 doi: 10.1007/s12519-018-00224-0. PMID: 30721404
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
Park SJ, Kim Y, Chen YM
Pediatr Nephrol 2019 Sep;34(9):1493-1500. Epub 2018 Aug 11 doi: 10.1007/s00467-018-4031-2. PMID: 30099615Free PMC Article
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391

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
Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.
Tahoun M, Chandler JC, Ashton E, Haston S, Hannan A, Kim JS, D'Arco F, Bockenhauer D, Anderson G, Lin MH, Marzouk S, Saied MH, Miner JH, Dattani MT, Waters AM
J Clin Endocrinol Metab 2020 Mar 1;105(3):595-9. doi: 10.1210/clinem/dgz216. PMID: 31769495Free PMC Article
Genetics of congenital and infantile nephrotic syndrome.
Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA
World J Pediatr 2019 Apr;15(2):198-203. Epub 2019 Feb 5 doi: 10.1007/s12519-018-00224-0. PMID: 30721404
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
Park SJ, Kim Y, Chen YM
Pediatr Nephrol 2019 Sep;34(9):1493-1500. Epub 2018 Aug 11 doi: 10.1007/s00467-018-4031-2. PMID: 30099615Free PMC Article
The etiology of congenital nephrotic syndrome: current status and challenges.
Wang JJ, Mao JH
World J Pediatr 2016 May;12(2):149-58. Epub 2016 Mar 9 doi: 10.1007/s12519-016-0009-y. PMID: 26961288

Therapy

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T
Eur J Pediatr 2022 Oct;181(10):3595-3606. Epub 2022 Aug 3 doi: 10.1007/s00431-022-04581-x. PMID: 35920919
Kidney podocyte-associated gene polymorphisms affect tacrolimus concentration in pediatric patients with refractory nephrotic syndrome.
Mo X, Li J, Liu Y, Liao X, Tan M, Chen Y, He F, He Y, Li Y, Huang M
Pharmacogenomics J 2020 Aug;20(4):543-552. Epub 2020 Jan 6 doi: 10.1038/s41397-019-0141-x. PMID: 31902946
Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.
Suvanto M, Patrakka J, Jahnukainen T, Sjöström PM, Nuutinen M, Arikoski P, Kataja J, Kestilä M, Jalanko H
Clin Exp Nephrol 2017 Aug;21(4):677-684. Epub 2016 Aug 29 doi: 10.1007/s10157-016-1331-3. PMID: 27573339
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber S, Konrad M
Clin J Am Soc Nephrol 2010 Nov;5(11):2075-84. Epub 2010 Aug 26 doi: 10.2215/CJN.01190210. PMID: 20798252Free PMC Article
Eye involvement in children with primary focal segmental glomerulosclerosis.
Ozaltin F, Heeringa S, Poyraz CE, Bilginer Y, Kadayifcilar S, Besbas N, Topaloglu R, Ozen S, Hildebrandt F, Bakkaloglu A
Pediatr Nephrol 2008 Mar;23(3):421-7. Epub 2007 Dec 5 doi: 10.1007/s00467-007-0695-8. PMID: 18058136

Prognosis

Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA
Mol Genet Genomic Med 2023 Sep;11(9):e2201. Epub 2023 May 19 doi: 10.1002/mgg3.2201. PMID: 37204080Free PMC Article
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
Genetics of congenital and infantile nephrotic syndrome.
Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA
World J Pediatr 2019 Apr;15(2):198-203. Epub 2019 Feb 5 doi: 10.1007/s12519-018-00224-0. PMID: 30721404
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O, Besbas N, Duzova A, Topaloglu R, Peco-Antić A, Korkmaz E, Ozaltin F
Pediatr Nephrol 2015 Aug;30(8):1279-87. Epub 2015 Feb 27 doi: 10.1007/s00467-015-3058-x. PMID: 25720465

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
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.
Wang Y, Dang X, He Q, Zhen Y, He X, Yi Z, Zhu K
Gene 2017 Aug 20;625:15-20. Epub 2017 May 2 doi: 10.1016/j.gene.2017.04.050. PMID: 28476686
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O, Besbas N, Duzova A, Topaloglu R, Peco-Antić A, Korkmaz E, Ozaltin F
Pediatr Nephrol 2015 Aug;30(8):1279-87. Epub 2015 Feb 27 doi: 10.1007/s00467-015-3058-x. PMID: 25720465
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nürnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Bröking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nürnberg P, Zenker M, Hildebrandt F
Kidney Int 2006 Sep;70(6):1008-12. Epub 2006 Aug 16 doi: 10.1038/sj.ki.5001679. PMID: 16912710

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