Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin β2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolysis bullosa.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.5546/aap.2020.eng.e288 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The clinical characteristics and genotype analysis of gene mutation.
Front Med (Lausanne)
October 2024
Department of Nephrology, Fudan University Affiliated Children's Hospital Xiamen Hospital (Xiamen Children's Hospital), Xiamen, China.
Article Synopsis
- The study reports on a case of steroid-resistant nephrotic syndrome in a 9-month-old infant caused by novel gene mutations, highlighting the clinical and genetic features of Pierson syndrome.
- Retrospective analysis included clinical presentation, genetic mutation features, and prognosis, supported by literature searches in various medical databases.
- The findings revealed specific genetic mutations, common histopathological results, and a trend toward severe outcomes in affected patients, with a significant proportion progressing to end-stage kidney disease.
Polymerizing laminins in development, health, and disease.
J Biol Chem
July 2024
Department of Biochemistry and Microbiology, Institute for Quantitative Biomedicine, Rutgers University, Piscataway, New Jersey, USA.
Polymerizing laminins are multi-domain basement membrane (BM) glycoproteins that self-assemble into cell-anchored planar lattices to establish the initial BM scaffold. Nidogens, collagen-IV and proteoglycans then bind to the scaffold at different domain loci to create a mature BM. The LN domains of adjacent laminins bind to each other to form a polymer node, while the LG domains attach to cytoskeletal-anchoring integrins and dystroglycan, as well as to sulfatides and heparan sulfates.
View Article and Find Full Text PDFExpanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.
Neuromuscul Disord
June 2024
Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Program of Genetic and Genome Biology, The Hospital for Sick Children, University of Toronto, Toronto, Canada. Electronic address:
LAMB2 gene disorders present with different phenotypes. Pierson syndrome (PS) is a common phenotype associated with LAMB2 variants. Neuromuscular phenotype has been reported including hypotonia and developmental delay.
View Article and Find Full Text PDFLAMB2 gene: broad clinical spectrum in Pierson syndrome.
CEN Case Rep
August 2024
Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey.
Pierson syndrome (PS) is a rare autosomal recessive disease, characterized by congenital nephrotic syndrome (CNS), and ocular and neurologic abnormalities. In affected cases, there is abnormal b-2 laminin which is compound of the several basement membranes caused by inherited mutations in the LAMB2 gene. Although patients have mutations in the same gene, the phenotype is highly variable.
View Article and Find Full Text PDFSystematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in -Associated Disease.
Kidney Int Rep
September 2023
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Article Synopsis
- Pierson syndrome, linked to laminin subunit beta-2, typically causes congenital nephrotic syndrome, eye issues, and neuromuscular problems; recent advancements in next-generation sequencing have uncovered various phenotypes associated with this disease.
- A study analyzed 110 patients, including 12 new cases, focusing on genetic variants, nephropathy severity, and other symptoms, finding that 78% presented with nephrotic syndrome and many developed end-stage kidney disease (ESKD) within 12 months.
- Results indicated that patients with specific genetic variants (biallelic truncating variants) experienced earlier onset of ESKD compared to others, but no significant differences were found regarding disease progression between different types of genetic variants
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!