Case Report of Novel LAMB2 Gene Mutation in Palestinian Infant with Pierson (Microcoria-Congenital Nephrosis) Syndrome

Zaid M

doi:10.15744/2767-9225.1.103

Abstract

Laminin β2 (LAMB2) gene mutation typically causes a rare autosomal recessive inherited disorder called Pierson syndrome (PS) that present in the neonatal period and progressively affecting renal and ocular functions in the form of congenital nephrotic syndrome (CNS) combined with bilateral microcoria.

Highlights

Pierson syndrome (Microcoria‐congenital nephrosis) is a rare inherited disorder characterized by congenital nephrotic syndrome that rapidly progressing to end stage renal failure within first 3 months of life
We report the first Palestinian case of Pierson syndrome with proven causative unique LAMB2 gene mutation that is not documented before
We describe a case of neonatal Pierson syndrome from Palestine which confirmed by LAMB2 gene analysis that revealed compound homozygous mutation at position p.Arg550Ter (R550X) in exon 13 of LAMB2 gene

Summary

Introduction

Pierson syndrome (Microcoria‐congenital nephrosis) is a rare inherited disorder characterized by congenital nephrotic syndrome that rapidly progressing to end stage renal failure within first 3 months of life. It can be accompanied by extra-renal manifestations, such as microcoria and neurological abnormalities. It is a rare condition originally described in 1963 [1,2]. The genetic background was identified in 2004 as mutations that affect the LAMB2 gene on chromosome 3p21. We here report on a patient with neonatal LAMB2 gene analysis revealed an unreported homozygous

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Discussion

Conclusion