An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma12. Issue 4 (12th March 2013)

• Record Type: Journal Article
• Authors: Minhas, Hassan M.; Pescosolido, Matthew F.; Schwede, Matthew; Piasecka, Justyna; Gaitanis, John; Tantravahi, Umadevi; Morrow, Eric M.
• Is Part Of: American journal of medical genetics. Volume 161:Issue 4(2013:Apr.)
• Page Start: 787
• Page End: 791
• Publication Date: 2013-03-12
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35841
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>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 <italic>Neurotrimin</italic> (NTM) and <italic>Opioid Binding Protein/Cell Adhesion Molecule‐like</italic> (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. © 2013 Wiley Periodicals, Inc.</p> </abstract>