title: Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations.
abstract: This study presents a clinical report of the Finnish chromosome t(18q; 10p) translocation family with an overview of eight other selected immunoglobulin A (IgA)-deficient 18q deletion (18q-) patients from seven published articles. The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD). Genotype-phenotype correlation study of the unbalanced t(18q-; 10p+) translocation family members and other 18q- syndrome reports led to definition of a potential susceptibility gene locus for IgAD at distal region of 18q22.3-q23 between markers D18S812-18qter. The haplo-insufficiency of the 18q22.3-q23 gene region is suggested to be a cause of the IgAD phenotype in 18q- individuals. This 7 Mb IgAD critical region shows significant association with susceptibility region for celiac disease that is frequently connected to IgAD.
authors.affiliation: Center for Neurologic Diseases, Brigham Women Hospital and Harvard Medical School, Boston, MA 02115, USA. adostal@rics.bwh.harvard.edu
authors.forename: A
authors.initials: A
authors.lastname: Dostal
authors.forename: T
authors.initials: T
authors.lastname: Linnankivi
authors.forename: M
authors.initials: M
authors.lastname: Somer
authors.forename: M
authors.initials: M
authors.lastname: Kähkönen
authors.forename: J
authors.initials: J
authors.lastname: Litzman
authors.forename: P
authors.initials: P
authors.lastname: Tienari
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002887:Chromosomes, Human, Pair 18; D005190:Family; D005260:Female; D005387:Finland; D020022:Genetic Predisposition to Disease; D006801:Humans; D017098:IgA Deficiency / Q000151:congenital / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D014178:Translocation, Genetic