Abstract
Pierson syndrome (PS) is a rare autosomal recessive disease, characterized by congenital nephrotic syndrome (CNS), and ocular and neurologic abnormalities. In affected cases, there is abnormal b-2 laminin which is compound of the several basement membranes caused by inherited mutations in the LAMB2 gene. Although patients have mutations in the same gene, the phenotype is highly variable. In this case series, the relationship between genotype and phenotype is emphasized, and information about the clinical follow-up of the patients is presented. Hereby, we report four pediatric cases with PS as a result of mutation in the LAMB2 gene. Clinical spectrum of LAMB2-associated disorders varies from mild-to-severe ocular, kidney, and neurologic involvement. Since genotype–phenotype correlation in PS has not been clearly demonstrated, we recommend that all patients with ophthalmic anomalies and glomerular proteinuria should be tested for LAMB2 mutations.
Similar content being viewed by others
References
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.
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.
Durbeej M. Laminins. Cell Tissue Res. 2010;339:259–68.
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.
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.
Bredrup C, Matejas V, Barrow M, et al. Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol. 2008;146:602–11.
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.
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.
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.
Boyer O, Mollet G, Dorval G. Neurological involvement in monogenic podocytopathies. Pediatr Nephrol. 2021;36:3571–83.
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.
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.
Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. A milder variant of Pierson syndrome. Pediatr Nephrol. 2008;23:323–7.
Choi HJ, Lee BH, Kang JH, et al. Variable phenotype of Pierson syndrome. Pediatr Nephrol. 2008;23:995–1000.
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.
ALKhamees A, ALShemmari M. Case of Pierson syndrome presented with hyphema, vitrous haemorrhage and subsequent neovascular glaucoma. BMC Ophthalmol. 2023;23:76.
Funk SD, Lin MH, Miner JH. Alport syndrome and Pierson syndrome: diseases of the glomerular basement membrane. Matrix Biol. 2018;71–72:250–61.
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.
Funding
The authors declare that no funds, grants, or other support was received during the preparation of this manuscript.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors have no conflicts of interest to disclose.
Ethical approval
Informed consent was obtained from the parents of each patient included in the study for the use of patient data for scientific and academic purposes, provided that the identity information of the patients remained confidential.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
About this article
Cite this article
Leventoğlu, E., Dönmez, E., Uzun Kenan, B. et al. LAMB2 gene: broad clinical spectrum in Pierson syndrome. CEN Case Rep (2023). https://doi.org/10.1007/s13730-023-00838-y
Received:
Accepted:
Published:
DOI: https://doi.org/10.1007/s13730-023-00838-y