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A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder.

Gene (2014-03-13)
Isabela M W Silva, Jill Rosenfeld, Sergio A Antoniuk, Salmo Raskin, Vanessa S Sotomaior
ABSTRACT

We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5Mb 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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Anti-ERC1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution, Ab1
Sigma-Aldrich
Anti-ERC1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution, Ab2
Sigma-Aldrich
Monoclonal Anti-ELKS antibody produced in mouse, clone ELKS-30, purified from hybridoma cell culture

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