title: An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma.
abstract: We report on a pedigree with a pair of brothers each with minor anomalies, developmental delay, and autistic-symptoms who share an unbalanced translocation (not detectable by karyotype). The unbalanced translocation involves a 7.1 Mb loss of the terminal portion of 10q, and a 4.2 Mb gain of 11q. One of the brothers also developed a cerebellar juvenile pilocytic astrocytoma. The father was found to be a balanced carrier and the couple had a previous miscarriage. We demonstrate that the breakpoint for the triplicated region from chromosome 11 is adjacent to two IgLON genes, namely Neurotrimin (NTM) and Opioid Binding Protein/Cell Adhesion Molecule-like (OPCML). These genes are highly similar neural cell adhesion molecules that have been implicated in synaptogenesis and oncogenesis, respectively. The children also have a 10q deletion and are compared to other children with the 10q deletion syndrome which generally does not involve autism spectrum disorders (ASDs) or cancer. Together these data support a role for NTM and OPCML in developmental delay and potentially in cancer susceptibility.
authors.affiliation: Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital, The Warren Alpert Medical School of Brown University, Providence, RI 02912, USA.
authors.forename: Hassan M
authors.initials: HM
authors.lastname: Minhas
authors.forename: Matthew F
authors.initials: MF
authors.lastname: Pescosolido
authors.forename: Matthew
authors.initials: M
authors.lastname: Schwede
authors.forename: Justyna
authors.initials: J
authors.lastname: Piasecka
authors.forename: John
authors.initials: J
authors.lastname: Gaitanis
authors.forename: Umadevi
authors.initials: U
authors.lastname: Tantravahi
authors.forename: Eric M
authors.initials: EM
authors.lastname: Morrow
mesh_terms: D001254:Astrocytoma / Q000175:diagnosis / Q000235:genetics*; D002528:Cerebellar Neoplasms / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002880:Chromosomes, Human, Pair 11; D055028:Comparative Genomic Hybridization; D003598:Cytoskeletal Proteins; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy
chemical_list: C556020:C10orf90 protein, human; D003598:Cytoskeletal Proteins; D011506:Proteins