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

Dietrich, Andreas; Matejas, Verena; Bitzan, Martin; Hashmi, Seema; Kiraly-Borri, Cathy; Lin, Shuan-Pei; Mildenberger, Eva; Hoppe, Bernd; Palm, Lars LU and Shiihara, Takashi, et al. (2008) In Pediatric Nephrology 23(10). p.1779-1786
Abstract
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... (More)
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. (Less)
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publication status
published
subject
keywords
mental retardation, microcephaly, nephrotic syndrome, congenital, brain, anomalies
in
Pediatric Nephrology
volume
23
issue
10
pages
1779 - 1786
publisher
Springer
external identifiers
  • wos:000258902600007
  • scopus:51549088768
ISSN
1432-198X
DOI
10.1007/s00467-008-0880-4
language
English
LU publication?
yes
id
20159eba-2217-4ec5-8d15-91151f3f0b6d (old id 1247173)
date added to LUP
2008-11-14 14:55:04
date last changed
2017-01-01 06:02:43
@article{20159eba-2217-4ec5-8d15-91151f3f0b6d,
  abstract     = {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.},
  author       = {Dietrich, Andreas and Matejas, Verena and Bitzan, Martin and Hashmi, Seema and Kiraly-Borri, Cathy and Lin, Shuan-Pei and Mildenberger, Eva and Hoppe, Bernd and Palm, Lars and Shiihara, Takashi and Steiss, Jens-Oliver and Tsai, Jeng-Daw and Vester, Udo and Weber, Stefanie and Wuehl, Elke and Zepf, Kristina and Zenker, Martin},
  issn         = {1432-198X},
  keyword      = {mental retardation,microcephaly,nephrotic syndrome,congenital,brain,anomalies},
  language     = {eng},
  number       = {10},
  pages        = {1779--1786},
  publisher    = {Springer},
  series       = {Pediatric Nephrology},
  title        = {Analysis of genes encoding laminin beta 2 and related proteins in patients with Galloway-Mowat syndrome},
  url          = {http://dx.doi.org/10.1007/s00467-008-0880-4},
  volume       = {23},
  year         = {2008},
}