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

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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.

Detaljer

Författare
  • Andreas Dietrich
  • Verena Matejas
  • Martin Bitzan
  • Seema Hashmi
  • Cathy Kiraly-Borri
  • Shuan-Pei Lin
  • Eva Mildenberger
  • Bernd Hoppe
  • Lars Palm
  • Takashi Shiihara
  • Jens-Oliver Steiss
  • Jeng-Daw Tsai
  • Udo Vester
  • Stefanie Weber
  • Elke Wuehl
  • Kristina Zepf
  • Martin Zenker
Enheter & grupper
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Pediatrik

Nyckelord

Originalspråkengelska
Sidor (från-till)1779-1786
TidskriftPediatric Nephrology
Volym23
Utgåva nummer10
StatusPublished - 2008
PublikationskategoriForskning
Peer review utfördJa