Variable phenotype of Pierson syndrome

Hyun Jin Choi, Beom Hee Lee, Ju Hyung Kang, Hyoen Joo Jeong, Kyung Chul Moon, Il Soo Ha, Youngsuk Yu, Verena Matejas, Martin Zenker, Yong Choi, Hae Il Cheong

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin β2 chain, and is clinically characterized by congenital nephrotic syndrome (CNS) and bilateral microcoria. Here, we describe two cases of Pierson syndrome involving atypical phenotypes. Patient 1 presented with congenital microcoria and infantile nephrotic syndrome. Despite persistent nephrotic syndrome, her renal function was maintained normally until she was 6 years old. Genetic analysis revealed two frame-shifting deletions (truncating mutations) in the LAMB2 gene. Patient 2 presented with isolated CNS without ocular involvement. Her renal function deteriorated progressively over several months, and retinal detachment in the right eye developed when she was aged 10 months. LAMB2 analysis revealed a missense mutation in one allele and a frame-shifting deletion in the other allele. Electron microscopy of a renal biopsy revealed irregular lamellation of the glomerular basement membrane (GBM) in both patients. The phenotypes of Pierson syndrome vary widely, and the severity of the renal phenotype is not always parallel to that of the ocular phenotype. The phenotypic variability likely reflects genotype-phenotype correlations, but unknown genetic or environmental modifiers may play an additional role. Ultrastructural changes of the GBM are a useful diagnostic indicator.

Original languageEnglish
Pages (from-to)995-1000
Number of pages6
JournalPediatric Nephrology
Volume23
Issue number6
DOIs
StatePublished - 1 Jun 2008

Fingerprint

Phenotype
Kidney
Glomerular Basement Membrane
Nephrotic Syndrome
Alleles
Sequence Deletion
Genetic Association Studies
Laminin
Retinal Detachment
Missense Mutation
Genes
Electron Microscopy
Pierson syndrome
Biopsy
Mutation

Keywords

  • Congenital nephrotic syndrome
  • Glomerular basement membrane
  • LAMB2 gene
  • Laminin β2chain
  • Microcoria
  • Pierson syndrome

Cite this

Choi, Hyun Jin ; Lee, Beom Hee ; Kang, Ju Hyung ; Jeong, Hyoen Joo ; Moon, Kyung Chul ; Ha, Il Soo ; Yu, Youngsuk ; Matejas, Verena ; Zenker, Martin ; Choi, Yong ; Cheong, Hae Il. / Variable phenotype of Pierson syndrome. In: Pediatric Nephrology. 2008 ; Vol. 23, No. 6. pp. 995-1000.
@article{fc109b12eca540a88d6ed9df9ff8ae29,
title = "Variable phenotype of Pierson syndrome",
abstract = "Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin β2 chain, and is clinically characterized by congenital nephrotic syndrome (CNS) and bilateral microcoria. Here, we describe two cases of Pierson syndrome involving atypical phenotypes. Patient 1 presented with congenital microcoria and infantile nephrotic syndrome. Despite persistent nephrotic syndrome, her renal function was maintained normally until she was 6 years old. Genetic analysis revealed two frame-shifting deletions (truncating mutations) in the LAMB2 gene. Patient 2 presented with isolated CNS without ocular involvement. Her renal function deteriorated progressively over several months, and retinal detachment in the right eye developed when she was aged 10 months. LAMB2 analysis revealed a missense mutation in one allele and a frame-shifting deletion in the other allele. Electron microscopy of a renal biopsy revealed irregular lamellation of the glomerular basement membrane (GBM) in both patients. The phenotypes of Pierson syndrome vary widely, and the severity of the renal phenotype is not always parallel to that of the ocular phenotype. The phenotypic variability likely reflects genotype-phenotype correlations, but unknown genetic or environmental modifiers may play an additional role. Ultrastructural changes of the GBM are a useful diagnostic indicator.",
keywords = "Congenital nephrotic syndrome, Glomerular basement membrane, LAMB2 gene, Laminin β2chain, Microcoria, Pierson syndrome",
author = "Choi, {Hyun Jin} and Lee, {Beom Hee} and Kang, {Ju Hyung} and Jeong, {Hyoen Joo} and Moon, {Kyung Chul} and Ha, {Il Soo} and Youngsuk Yu and Verena Matejas and Martin Zenker and Yong Choi and Cheong, {Hae Il}",
year = "2008",
month = "6",
day = "1",
doi = "10.1007/s00467-008-0748-7",
language = "English",
volume = "23",
pages = "995--1000",
journal = "Pediatric Nephrology",
issn = "0931-041X",
publisher = "Springer Verlag",
number = "6",

}

Choi, HJ, Lee, BH, Kang, JH, Jeong, HJ, Moon, KC, Ha, IS, Yu, Y, Matejas, V, Zenker, M, Choi, Y & Cheong, HI 2008, 'Variable phenotype of Pierson syndrome', Pediatric Nephrology, vol. 23, no. 6, pp. 995-1000. https://doi.org/10.1007/s00467-008-0748-7

Variable phenotype of Pierson syndrome. / Choi, Hyun Jin; Lee, Beom Hee; Kang, Ju Hyung; Jeong, Hyoen Joo; Moon, Kyung Chul; Ha, Il Soo; Yu, Youngsuk; Matejas, Verena; Zenker, Martin; Choi, Yong; Cheong, Hae Il.

In: Pediatric Nephrology, Vol. 23, No. 6, 01.06.2008, p. 995-1000.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Variable phenotype of Pierson syndrome

AU - Choi, Hyun Jin

AU - Lee, Beom Hee

AU - Kang, Ju Hyung

AU - Jeong, Hyoen Joo

AU - Moon, Kyung Chul

AU - Ha, Il Soo

AU - Yu, Youngsuk

AU - Matejas, Verena

AU - Zenker, Martin

AU - Choi, Yong

AU - Cheong, Hae Il

PY - 2008/6/1

Y1 - 2008/6/1

N2 - Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin β2 chain, and is clinically characterized by congenital nephrotic syndrome (CNS) and bilateral microcoria. Here, we describe two cases of Pierson syndrome involving atypical phenotypes. Patient 1 presented with congenital microcoria and infantile nephrotic syndrome. Despite persistent nephrotic syndrome, her renal function was maintained normally until she was 6 years old. Genetic analysis revealed two frame-shifting deletions (truncating mutations) in the LAMB2 gene. Patient 2 presented with isolated CNS without ocular involvement. Her renal function deteriorated progressively over several months, and retinal detachment in the right eye developed when she was aged 10 months. LAMB2 analysis revealed a missense mutation in one allele and a frame-shifting deletion in the other allele. Electron microscopy of a renal biopsy revealed irregular lamellation of the glomerular basement membrane (GBM) in both patients. The phenotypes of Pierson syndrome vary widely, and the severity of the renal phenotype is not always parallel to that of the ocular phenotype. The phenotypic variability likely reflects genotype-phenotype correlations, but unknown genetic or environmental modifiers may play an additional role. Ultrastructural changes of the GBM are a useful diagnostic indicator.

AB - Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin β2 chain, and is clinically characterized by congenital nephrotic syndrome (CNS) and bilateral microcoria. Here, we describe two cases of Pierson syndrome involving atypical phenotypes. Patient 1 presented with congenital microcoria and infantile nephrotic syndrome. Despite persistent nephrotic syndrome, her renal function was maintained normally until she was 6 years old. Genetic analysis revealed two frame-shifting deletions (truncating mutations) in the LAMB2 gene. Patient 2 presented with isolated CNS without ocular involvement. Her renal function deteriorated progressively over several months, and retinal detachment in the right eye developed when she was aged 10 months. LAMB2 analysis revealed a missense mutation in one allele and a frame-shifting deletion in the other allele. Electron microscopy of a renal biopsy revealed irregular lamellation of the glomerular basement membrane (GBM) in both patients. The phenotypes of Pierson syndrome vary widely, and the severity of the renal phenotype is not always parallel to that of the ocular phenotype. The phenotypic variability likely reflects genotype-phenotype correlations, but unknown genetic or environmental modifiers may play an additional role. Ultrastructural changes of the GBM are a useful diagnostic indicator.

KW - Congenital nephrotic syndrome

KW - Glomerular basement membrane

KW - LAMB2 gene

KW - Laminin β2chain

KW - Microcoria

KW - Pierson syndrome

UR - http://www.scopus.com/inward/record.url?scp=42649132827&partnerID=8YFLogxK

U2 - 10.1007/s00467-008-0748-7

DO - 10.1007/s00467-008-0748-7

M3 - Article

C2 - 18278520

AN - SCOPUS:42649132827

VL - 23

SP - 995

EP - 1000

JO - Pediatric Nephrology

JF - Pediatric Nephrology

SN - 0931-041X

IS - 6

ER -