b5’s Kids Health Notes and Autism Vox – CNTNAP2 implicated in autism

Grace at Kids Health Notes and Kristina at Autism Vox have both written about the gene CNTNAP2 being unequivocally implicated in Type 1 Autism.

In her article CNTNAP2, an autism susceptibility gene which I highly recommend,  Kristina writes a personal account of her ongoing experience with her son Charlie’s autism and discusses the recent research findings.

Do read Grace’s article titled CNTNAP2 ‘unequivocally implicated’ in Type 1 autism which summarizes the three main pieces of research appearing in the American Journal of Genetics.

For the scientists:

Contactin Associated Protein-Like 2 is also known as CDFE; NRXN4; CASPR2; DKFZp781D1846. This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.

Genomic position – chromosome: 7; Location: 7q35-q36

Elaine Warburton