[thedoc (OP)]

Ceci Fernandez  asked the Naked Scientists:
   
I was told after genetic testing my son was born with out Contactin 6 and don't know any one else who was or what it could cause?

What do you think?

[evan_au]

This protein seems to be important in nerve cell development, and joining nerves together to make nerve connections. The lack of it sounds rather serious, I'm afraid.

I would ask to see a genetic counseller, as they may be able to explain the impact more clearly, and describe any similar cases that are on record.

When he said your son was born without Contactin 6, the doctor is suggesting that the genes in your son's DNA which should produce the protein Contactin 6 are not functioning properly (or at all).

This could occur because of a mutation in the gene itself, or in one of the genes which regulate its production.

Dictionary definition: 1.(biochemistry) Any of several glycoproteins active in cell adhesion
http://en.wiktionary.org/wiki/contactin

Genetic description of Contactin 6:
http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN6

[evan_au]

PS: There is a certain amount you can tell from looking at the genetics of an individual.

However, there is much more that can be discovered by looking at the genetics of the parents as well (at more cost, of course).

• It is possible to tell if a mutation is an unfortunate accident in one individual that is unlikely to be repeated
  
• Or if there is a significant chance that it will occur again with another child

We think that we "own" our genome, but in fact we share it with our extended families, so it is possible that genetic discoveries in one individual can have impacts far beyond the affected individual - for example, other members of the family may carry the same mutation, and it could potentially affect their children too.

For a small number of genetic conditions, there are known medications that can prevent or alleviate the condition, if treatment is started early enough.

However, for most conditions, there is currently no known treatment. This raises ethical concerns about whether you should you tell someone about something which cannot currently be treated.