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LAMB2 gene: broad clinical spectrum in Pierson syndrome.

Authors :
Leventoğlu E
Dönmez E
Uzun Kenan B
Yazıcıoğlu B
Büyükkaragöz B
Fidan K
Bakkaloğlu SA
Söylemezoğlu O
Source :
CEN case reports [CEN Case Rep] 2024 Aug; Vol. 13 (4), pp. 258-263. Date of Electronic Publication: 2023 Dec 01.
Publication Year :
2024

Abstract

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. In this case series, the relationship between genotype and phenotype is emphasized, and information about the clinical follow-up of the patients is presented. Hereby, we report four pediatric cases with PS as a result of mutation in the LAMB2 gene. Clinical spectrum of LAMB2-associated disorders varies from mild-to-severe ocular, kidney, and neurologic involvement. Since genotype-phenotype correlation in PS has not been clearly demonstrated, we recommend that all patients with ophthalmic anomalies and glomerular proteinuria should be tested for LAMB2 mutations.<br /> (© 2023. The Author(s), under exclusive licence to Japanese Society of Nephrology.)

Details

Language :
English
ISSN :
2192-4449
Volume :
13
Issue :
4
Database :
MEDLINE
Journal :
CEN case reports
Publication Type :
Academic Journal
Accession number :
38038886
Full Text :
https://doi.org/10.1007/s13730-023-00838-y