|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report ocular findings in a 5-month-old boy with Pierson syndrome with a novel mutation in LAMB2.
|
30120985 |
2018 |
|
Pierson syndrome
|
1.000 |
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 |
|
Pierson syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
|
29450879 |
2018 |
|
Pierson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Several mutations in the LN domains cause LAMA2-deficient muscular dystrophy and LAMB2-deficient Pierson syndrome.
|
29408412 |
2018 |
|
Pierson syndrome
|
1.000 |
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 |
|
Pierson syndrome
|
1.000 |
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 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LAMB2 mutations were confirmed in all the three cases, two presented with Pierson syndrome, while one presented with isolated infantile steroid-resistant nephrotic syndrome.
|
27925579 |
2017 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria.
|
27004562 |
2016 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.
|
27130041 |
2016 |
|
Pierson syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Pierson syndrome - a rare cause of congenital nephrotic syndrome.
|
24944146 |
2014 |
|
Pierson syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.
|
24293254 |
2014 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic diseases affecting laminin and type IV collagen synthesis also are presented, with an emphasis on mutations to LAMB2 (Pierson syndrome) and COL4A3, COL4A4, and COL4A5 (Alport syndrome), and their experimental mouse models.
|
22958488 |
2012 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Null mutations in laminin β2 (LAMB2) cause Pierson syndrome, a severe congenital nephrotic syndrome with ocular and neurologic defects.
|
21511833 |
2011 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
|
21236492 |
2011 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first Chinese case of Pierson syndrome diagnosed by clinical manifestations and LAMB2 gene mutations.
|
19861315 |
2010 |
|
Pierson syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The majority of disease-causing LAMB2 mutations are truncating, consistent with the hypothesis that loss of laminin beta2 function is the molecular basis of Pierson syndrome.
|
20556798 |
2010 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
|
20507940 |
2010 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The majority of disease-causing LAMB2 mutations are truncating, consistent with the hypothesis that loss of laminin beta2 function is the molecular basis of Pierson syndrome.
|
20556798 |
2010 |
|
Pierson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The most common mutations are in 4 genes, 3 of which are podocyte genes: NPHS1 (Finnish nephropathy), NPHS2 (podocin-induced focal segmental glomerulosclerosis), WT1 (diffuse mesangial sclerosis), and LAMB2 (Pierson syndrome).
|
18462046 |
2008 |
|
Pierson syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
This observation, together with two recent reports on milder variants of Pierson syndrome, corroborates the concept that the clinical expression of Pierson syndrome is more variable than initially described, and that milder phenotypes may be related to hypomorphic LAMB2 alleles.
|
17943323 |
2008 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LAMB2 mutations leading to lack of laminin beta2 were identified as the molecular cause underlying Pierson syndrome.
|
17256789 |
2007 |
|
Pierson syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
Pierson syndrome
|
1.000 |
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 |
|
Pierson syndrome
|
1.000 |
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 |
|
Pierson syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago.
|
16097004 |
2005 |