title: Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.
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 beta2. We hypothesized that GMS might be allelic to PS or be caused by defects in proteins that interact with laminin beta2. In a cohort of 18 patients with GMS or a GMS-like phenotype we therefore analyzed the genes encoding laminin beta2 (LAMB2), laminin alpha5 (LAMA5), alpha3-integrin (ITGA3), beta1-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.
authors.affiliation: Institute of Human Genetics, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054, Erlangen, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Dietrich
authors.forename: Verena
authors.initials: V
authors.lastname: Matejas
authors.forename: Martin
authors.initials: M
authors.lastname: Bitzan
authors.forename: Seema
authors.initials: S
authors.lastname: Hashmi
authors.forename: Cathy
authors.initials: C
authors.lastname: Kiraly-Borri
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Eva
authors.initials: E
authors.lastname: Mildenberger
authors.forename: Bernd
authors.initials: B
authors.lastname: Hoppe
authors.forename: Lars
authors.initials: L
authors.lastname: Palm
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.forename: Jens-Oliver
authors.initials: JO
authors.lastname: Steiss
authors.forename: Jeng-Daw
authors.initials: JD
authors.lastname: Tsai
authors.forename: Udo
authors.initials: U
authors.lastname: Vester
authors.forename: Stefanie
authors.initials: S
authors.lastname: Weber
authors.forename: Elke
authors.initials: E
authors.lastname: Wühl
authors.forename: Kristina
authors.initials: K
authors.lastname: Zepf
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
mesh_terms: D000185:Actinin / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007797:Laminin / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics*; D013577:Syndrome
chemical_list: C111453:ACTN4 protein, human; D007797:Laminin; D000185:Actinin; C058783:laminin beta2