LAMB2 gene: broad clinical spectrum in Pierson syndrome

Matejas V, Hinkes B, Alkandari F, et al. Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat. 2010;31:992–1002.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Büyükkaragöz B, Bakkaloğlu SA, Özmen C, Ezgü FS. Pierson syndrome characterized by mild renal variant: a case report. Gazi Med J. 2021;32:461–3.

Google Scholar 

Durbeej M. Laminins. Cell Tissue Res. 2010;339:259–68.

Article  CAS  PubMed  Google Scholar 

Aydin B, Ipek MS, Ozaltin F, et al. A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. Genet Couns. 2013;24(1):41–7.

Google Scholar 

Zenker M, Aigner T, Wendler O, et al. Human laminin b-2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet. 2004;13:2625–32.

Article  CAS  PubMed  Google Scholar 

Bredrup C, Matejas V, Barrow M, et al. Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol. 2008;146:602–11.

Article  PubMed  Google Scholar 

Arima M, Tsukamoto S, Akiyama R, et al. Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene. J AAPOS. 2018;22:401-403.e1.

Article  PubMed  Google Scholar 

Pierson M, Cordier J, Hervouuet F, Rauber G. Une curieuse association malformative cong’enitale et familiale atteignant l’oeil et le rein [An unusual congenital and familial congenital malformative combination involving the eye and kidney]. J Genet Hum. 1963;12:184–213.

CAS  PubMed  Google Scholar 

Wühl E, Kogan J, Zurowska A, et al. Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A. 2007;143:311–9.

Article  PubMed  Google Scholar 

Boyer O, Mollet G, Dorval G. Neurological involvement in monogenic podocytopathies. Pediatr Nephrol. 2021;36:3571–83.

Article  PubMed  Google Scholar 

Matejas V, Al-Gazali L, Amirlak I, Zenker M. A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant. 2006;21:3283–6.

Article  CAS  PubMed  Google Scholar 

Hasselbacher K, Wiggins RC, Matejas V, et al. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 2006;70:1008–12.

Article  CAS  PubMed  Google Scholar 

Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. A milder variant of Pierson syndrome. Pediatr Nephrol. 2008;23:323–7.

Article  PubMed  Google Scholar 

Choi HJ, Lee BH, Kang JH, et al. Variable phenotype of Pierson syndrome. Pediatr Nephrol. 2008;23:995–1000.

Article  PubMed  Google Scholar 

Falix FA, Bennebroek CA, van der Zwaag B, et al. A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure. Eur J Pediatr. 2017;176:515–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

ALKhamees A, ALShemmari M. Case of Pierson syndrome presented with hyphema, vitrous haemorrhage and subsequent neovascular glaucoma. BMC Ophthalmol. 2023;23:76.

Article  PubMed  PubMed Central  Google Scholar 

Funk SD, Lin MH, Miner JH. Alport syndrome and Pierson syndrome: diseases of the glomerular basement membrane. Matrix Biol. 2018;71–72:250–61.

Article  PubMed  PubMed Central  Google Scholar 

Suh JH, Jarad G, VanDeVoorde RG, Miner JH. Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin β2, a model for Pierson syndrome. Proc Natl Acad Sci USA. 2011;108:15348–53.

Article  CAS  PubMed  PubMed Central  Google Scholar 

留言 (0)

沒有登入
gif