Analysis of genes encoding laminin [beta]2 and related proteins in patients with Galloway-Mowat syndrome

Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder characterized by early onset nephrotic syndrome and microcephaly with various anomalies of the central nervous system. GMS likely represents a heterogeneous group of disorders with hitherto unknown genetic etiology. The clinical ph...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2008-10, Vol.23 (10), p.1779
Main Authors: Dietrich, Andreas, Matejas, Verena, Bitzan, Martin, Hashmi, Seema, Kiraly-borri, Cathy, Lin, Shuan-pei, Mildenberger, Eva, Hoppe, Bernd, Palm, Lars, Shiihara, Takashi, Steiss, Jens-oliver, Tsai, Jeng-daw, Vester, Udo, Weber, Stefanie, Wühl, Elke, Zepf, Kristina, Zenker, Martin
Format: Article
Language:English
Subjects:
Atrophy
Congenital diseases
Genes
Genotype & phenotype
Kidney diseases
Microcephaly
Mutation
Nephrology
Nervous system
Pathogenesis
Patients
Pediatrics
Proteins
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder characterized by early onset nephrotic syndrome and microcephaly with various anomalies of the central nervous system. GMS likely represents a heterogeneous group of disorders with hitherto unknown genetic etiology. The clinical phenotype to some extent overlaps that of Pierson syndrome (PS), which comprises congenital nephrotic syndrome and distinct ocular abnormalities but which may also include neurodevelopmental deficits and microcephaly. PS is caused by mutations of LAMB2, the gene encoding laminin [beta]2. We hypothesized that GMS might be allelic to PS or be caused by defects in proteins that interact with laminin [beta]2. In a cohort of 18 patients with GMS or a GMS-like phenotype we therefore analyzed the genes encoding laminin [beta]2 (LAMB2), laminin [alpha]5 (LAMA5), [alpha]3-integrin (ITGA3), [beta]1-integrin (ITGB1) and [alpha]-actinin-4 (ACTN4), but we failed to find causative mutations in these genes. We inferred that LAMA5, ITGA3, ITGB1, and ACTN4 are not directly involved in the pathogenesis of GMS. We excluded LAMB2 as a candidate gene for GMS. Further studies are required, including linkage analysis in families with GMS to identify genes underlying this disease. [PUBLICATION ABSTRACT]
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-008-0880-4