Chromosomal Loss of 3Q26.3–3Q26.32, Involving A Partial Neuroligin 1 Deletion, Identified by Genomic Microarray in A Child With Microcephaly, Seizure Disorder, and Severe Intellectual Disability

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Abstract

Neuroligin 1 (NLGN1) is one of five members of the neuroligin gene family and may represent a candidate gene for neurological disorders, as members of this family are involved in formation and remodeling of central nervous system synapses.NLGN1is expressed predominantly in the central nervous system, where it dimerizes and then binds with β–neurexin to form a functional synapse. Mutations in neurexin 1 (NRXN1) as well as two other members of the neuroligin family,NLGN3andNLGN4, have been associated with autism and mutations inNLGN4have also been associated with intellectual disability, seizures, and EEG abnormalities. Genomic microarray is recommended for the detection of chromosomal gains or losses in patients with intellectual disability and multiple congenital anomalies. Results of uncertain significance are not uncommon. Parental studies can provide additional information by demonstrating that the imbalance is either de novo or inherited, and therefore is more or less likely to be causative of the clinical phenotype. However, the possibility that even inherited deletions and duplications may play a role in the phenotype of the proband cannot be excluded as many copy number variants associated with neurodevelopmental conditions show incomplete penetrance and may be inherited from an unaffected parent. Here, we report on a patient with a 2.2 Mb deletion at 3q26.3–3q26.32—encompassing the terminal end ofNLGN1and the entireNAALADL2gene—detected by genomic microarray, and confirmed by FISH and real–time quantitative PCR. The same size deletion was subsequently found in her healthy, asymptomatic, adult mother. © 2011 Wiley Periodicals, Inc.

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