Monday, February 27, 2017

Latest review on genetics research

If you want to read the latest review on genetics and stuttering, you should read this Open Access article by Drayna and  Frigerio-Domingues.

Drayna is team leader at NIH for genetics of stuttering.

[Thanks to Ora for the tip]


Hugh said...

It impresses the percentage of cases that already have a genetic explanation (8.6 + 4.4 + 3.2 + 3.6 = 19,8% [!]). That is, almost 1 in every 5 cases can already be explained at the biomolecular level. This is amazing! Today it can be said that stuttering already has more documented neurobiological basis than Parkinson's, Autism or Alzheimer's, but, in spite of all this progress, almost no one specialist talks about it. Why?

"In one recent estimate, putative causative mutations in the GNPTAB gene were found in 87 of 1013 unrelated cases (8.6%) (Raza et al. 2015a). This study also found putative mutations in GNPTG in 45 of these 1013 cases (4.4%), and putative mutations in NAGPA in 32 of these 1013 cases (3.2%). Putative causative mutations in AP4E1 were found in 34 of 936 unrelated cases (3.6%) (Raza et al. 2015a,b)."

Anonymous said...

here's a new angle published not long ago: