A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure

Farah A. Falix, Carlien A.M. Bennebroek, Bert van der Zwaag, Ruth Lapid-Gortzak, Sandrine Florquin, Michiel J.S. Oosterveld

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings. The c.970T>C p.(Cys324Arg) mutation in the LAMB2 gene affects one of the eight highly conserved cysteine residues within the first EGF-like module of the laminin β2 protein. These residues form disulfide bonds in order to achieve a correct 3D structure of the protein. The reported phenotype is considered a relatively mild variant of Pierson syndrome and is associated with later-onset (18 months) therapy-resistant nephrotic syndrome leading to renal failure, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity. Importantly, the reported LAMB2 mutation was associated with normal neurological development in both siblings. Conclusion: this report presents the variability of the renal, ocular and neurological phenotypes associated with LAMB2 mutations and underscores the importance of ophthalmologic examination in all children with unexplained renal insufficiency or nephrotic syndrome.What is known• LAMB2 mutations are associated with Pierson syndromeWhat is new• A novel mutation in the LAMB2 gene in two female siblings• Genotype and clinical phenotype description of a novel LAMB2 mutation

Original languageEnglish
Pages (from-to)515-519
Number of pages5
JournalEuropean Journal of Pediatrics
Volume176
Issue number4
DOIs
StatePublished - 1 Apr 2017
Externally publishedYes

Keywords

  • LAMB2
  • Nephrotic syndrome
  • Ocular abnormalities
  • Pierson syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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