Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures
- 19 December 2013
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 164 (2), 441-448
- https://doi.org/10.1002/ajmg.a.36320
Abstract
A clinically recognizable syndrome associated with 1q41q42 microdeletion has recently been described in the literature (OMIM 612530). Patients with microdeletions in this region of chromosome 1 typically have developmental delay, characteristic dysmorphic features, and a predisposition to seizures. Malformations such as congenital diaphragmatic hernia and cleft lip have also been described. There has been considerable interest in mapping the smallest region of overlap for this syndrome in order to identify the critical pathogenic genes. The smallest region of overlap has recently been refined to a region encompassing four genes. Using array comparative genome hybridization (array CGH), we have identified a female with a 590‐kB deletion within chromosome1q41q42. This patient's deletion further refines the previously defined region of overlap to a single gene, FBXO28. We propose that FBXO28 is a possible candidate causative gene contributing to the intellectual disability and seizure phenotype observed in 1q41q42 microdeletion syndrome.Keywords
This publication has 40 references indexed in Scilit:
- Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophreniaNeuroReport, 2012
- The AAA-ATPase NVL2 is a telomerase component essential for holoenzyme assemblyBiochemical and Biophysical Research Communications, 2012
- Dihydroceramide-based Response to HypoxiaOnline Journal of Public Health Informatics, 2011
- Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype–genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndromeAmerican Journal of Medical Genetics Part A, 2010
- The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating ArcCell, 2010
- Pallbearer and friends: lending a hand in apoptotic cell clearanceTrends in Cell Biology, 2008
- Stomach-specific Calpain, nCL-2/Calpain 8, Is Active without Calpain Regulatory Subunit and Oligomerizes through C2-like DomainsOnline Journal of Public Health Informatics, 2007
- m-Calpain is required for preimplantation embryonic development in miceBMC Developmental Biology, 2006
- Angelman syndrome: a review of the clinical and genetic aspectsJournal of Medical Genetics, 2003
- The Product of the MLD Gene Is a Member of the Membrane Fatty Acid Desaturase Family: Overexpression of MLD Inhibits EGF Receptor Biosynthesis,Biochemistry, 1997