Abstract
We report a patient with loss of chromosome region 2q14.3 encompassing exon 1 of the gene CNTNAP5. The deletion occurred in association with a de novo complex chromosomal rearrangement, characterized by routine G-banding, fluorescence in situ hybridization and microarray analysis. The presented patient’s phenotype is dominated by severe early childhood weight gain, severe speech delay and behavioural problems. To our knowledge, a few similar patients have been reported previously. CNTNAP5 is a member of the neurexin gene family and is associated with autism spectrum disorder and potentially other behavioural and neurodevelopmental disorders. Recent data point to its possible role in obesity and/or metabolism. The phenotype of the herein presented pediatric patient corroborates CNTNAP5’s pathogenic role in human disease.
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The authors express their gratitude to the patient and his family for their cooperation and written informed consent.
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Corresponding editor: Ashwin Dalal
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Lengyel, A., Pinti, É., Nebral, K. et al. Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement. J Genet 100, 66 (2021). https://doi.org/10.1007/s12041-021-01316-z
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DOI: https://doi.org/10.1007/s12041-021-01316-z