Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities and neurodevelopmental delay (Pierson Syndrome).
|
31769495 |
2020 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LAMB2 that impact the synthesis or function of laminin α5β2γ1 (LM-521) cause Pierson syndrome (congenital nephrotic syndrome with eye and neurological defects) and its less severe variants, including isolated congenital nephrotic syndrome.
|
29673759 |
2018 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Congenital nephrotic syndrome (CNS) is primarily a monogenetic disease, with the majority of cases due to changes in five different genes: the nephrin (NPHS1), podocin (NPHS2), Wilms tumor 1 (WT1), laminin ß2 (LAMB2), and phospholipase C epsilon 1 (PLCE1, NPHS3) gene.
|
29663071 |
2018 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pierson syndrome, an autosomal recessive disorder caused by a mutation in laminin ß2 (LAMB2) gene, is characterized by congenital nephrotic syndrome and various ocular abnormalities.
|
30120985 |
2018 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the LAMB2 gene is associated with Pierson syndrome, which is an autosomal recessive disorder characterized by congenital nephrotic syndrome and ocular abnormalities.
|
29094445 |
2017 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
What is known • LAMB2 mutations are associated with Pierson syndrome • Pierson syndrome is associated with congenital nephrotic syndrome, microcoria and neurological deficits What is new • A novel mutation in the LAMB2 gene in two female siblings • Genotype and clinical phenotype description of a novel LAMB2 mutation.
|
28188379 |
2017 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the LAMB2 and NPHP1 are present in infants with isolated CNS.
|
27004562 |
2016 |
Nephrosis, congenital
|
0.100 |
Biomarker
|
disease |
BEFREE |
NPHS1, NPHS2, LAMB2 and the eighth and ninth exons of WT1 were sequenced in 80 and 22 patients with CNS and INS, respectively.
|
25720465 |
2015 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four rare variants were identified in gene encoding Laminin beta2 (LAMB2) which is known to cause congenital nephrotic syndrome.
|
26108971 |
2015 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast, patients with LAMB2 missense mutations, such as R246Q, can have less severe extrarenal defects but still exhibit congenital nephrotic syndrome.
|
21511833 |
2011 |
Nephrosis, congenital
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pierson syndrome is typically manifested with congenital nephrotic syndrome (CNS) and peculiar ocular changes.LAMB2 was the causative gene.
|
19861315 |
2010 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a severe form of congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin beta2 subunit (LAMB2).
|
19251977 |
2009 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin beta2 chain, and is clinically characterized by congenital nephrotic syndrome (CNS) and bilateral microcoria.
|
18278520 |
2008 |
Nephrosis, congenital
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations.
|
16450351 |
2006 |
Nephrosis, congenital
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings demonstrate that the spectrum of LAMB2-associated disorders is broader than previously anticipated and includes congenital nephrotic syndrome without eye anomalies or with minor ocular changes different from those observed in Pierson syndrome.
|
16912710 |
2006 |