Re: Regular Chats / FoxP2 gene and Dr. Flax

[Guest guest]

Hi and everyone!

, thank you so much for agreeing to host the chats for all of

us!! Perhaps one of our first expert guests can be Dr. Judy Flax?

When you read the following I think you will see why! ( -I'll

talk to you soon about this!)

I just sent the following to Dr. Judy Flax, one of the CHERAB

advisors, and as usual her answer is so intriguing, I asked if I

could share it here with all of you. I questioned Judy about recent

abstracts on FoxP2: (here is just one)

FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific

Language Impairment.

Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G, Jannoun L,

Slonims V, Stott CM, Merricks MJ, Bolton PF, AJ, Monaco AP.

Wellcome Trust Centre for Human Genetics, University of Oxford,

Oxford, United Kingdom.

The FOXP2 gene, located on human 7q31 (at the SPCH1 locus), encodes a

transcription factor containing a polyglutamine tract and a forkhead

domain. FOXP2 is mutated in a severe monogenic form of speech and

language impairment, segregating within a single large pedigree, and

is also disrupted by a translocation in an isolated case. Several

studies of autistic disorder have demonstrated linkage to a similar

region of 7q (the AUTS1 locus), leading to the proposal that a single

genetic factor on 7q31 contributes to both autism and language

disorders. In the present study, we directly evaluate the impact of

the FOXP2 gene with regard to both complex language impairments and

autism, through use of association and mutation screening analyses.

We conclude that coding-region variants in FOXP2 do not underlie the

AUTS1 linkage and that the gene is unlikely to play a role in autism

or more common forms of language impairment.

(May have to cut and paste this link)

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?

cmd=Retrieve & db=PubMed & list_uids=11894222 & dopt=Abstract

The following is Dr. Flax's responses:

Reply to: RE: Fox P2 question

, thank you for sending these to me. I will check the original

source for both abstracts, but these finding do not surprise me at

all. Those of us who seriously study SLI were concerned all along

that the FOX P2 gene was being identified as a language gene when we

knew that so many family members had apraxic-like profiles as their

primary speech characteristic. For your work on apraxia, this is a

good thing since I think that they have actually found a gene that a

strongly associated with apraxia. They never really call it that

(don't know why..but maybe they do in these papers), but they

constantly elude to sound sequencing, fluid speech, etc. I will have

a better feel for it once I actually read the papers. The exciting

thing is that I think they are really on to something both

genetically and in terms of brain structure in function. I will leet

you know what I think once I get to read the papers.

Judy F. Flax, Ph.D.

Center for Molecular and Behavioral Neuroscience

Rutgers University

197 University Avenue

Newark, New Jersey 07102

(973) 353-1080 x3214

FAX: (973) 353-1760