A 1.5 Mb terminal deletion of 12p associated with autism spectrum disorder |
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| Authors: | Isabela M.W. Silva Jill Rosenfeld Sergio A. Antoniuk Salmo Raskin Vanessa S. Sotomaior |
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| Affiliation: | 1. Group for Advanced Molecular Investigation (NIMA), School of Health and Biosciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil;2. Signature Genomics, PerkinElmer, Inc., Spokane, WA, USA;3. Pediatrics Department, Universidade Federal do Paraná, Curitiba, Paraná, Brazil;4. GENETIKA — Centro de Aconselhamento e Laboratorio de Genetica, Curitiba, Paraná, Brazil;5. Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil |
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| Abstract: | We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5 Mb in size and encompasses 13 genes (B4GALNT3, CCDC77, ERC1, FBXL14, IQSEC3, KDM5A, LINC00942, LOC574538, NINJ2, RAD52, SLC6A12, SLC6A13 and WNK1). All previous cases reported with partial monosomy of 12p13.33 are associated with neurodevelopmental delay, and we suggest that ERC1, which encodes a regulator of neurotransmitter release, is the best gene candidate contributing to this phenotype as well as to the ASD of our patient. |
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| Keywords: | aCGH, array CGH ADD, Attention Deficit Disorder ADHD, Attention Deficit Hyperactivity Disorder ASD, Autism Spectrum Disorder B4GALNT3, beta-1,4-N-acetyl-galactosaminyl transferase 3 BAC, bacterial artificial chromosome CARS, Childhood Autism Rating Scale CCDC77, coiled-coil domain containing 77 CGH, comparative genomic hybridization CNV, chromosomal copy number variation DGV, Database of Genomic Variants DSM-IV, Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition ERC1, ELKS/RAB6-interacting/CAST family member 1 FBXL14, F-box and leucine-rich repeat protein 14 FISH, fluorescence in situ hybridization hg19, Genome Reference Consortium Human Build 37 IQSEC3, IQ motif and Sec7 domain 3 KDM5A, lysine (K)-specific demethylase 5A LINC00942, long intergenic non-protein coding RNA 942 LOC574538, uncharacterized LOC574538 NIMA, Group for Advanced Molecular Investigation NINJ2, ninjurin 2 PUCPR, Pontifí cia Universidade Cató lica do Paraná RAD52, RAD52 homolog (S. cerevisiae) SLC6A1, solute carrier family 6 (neurotransmitter transporter, GABA), member 1 SLC6A12, solute carrier family 6 (neurotransmitter transporter, GABA), member 12 SLC6A13, solute carrier family 6 (neurotransmitter transporter, GABA), member 13 WNK1, WNK lysine deficient protein kinase 1 |
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