Table 2. Ratio of macrocephaly, PTEN mutations and ASD behaviors in previous articles .
| Authors | Ratio of macrocephaly in individuals with PTEN mutations | Descriptions |
Ratio of mutation/ autism |
Ratio of macrocephaly/ autism | References |
|
Butler et al 2005 |
(3/3) | Only ASD patients who had macrocephaly, were analyzed for PTEN mutations | (3/18) |
(18/18) *1 |
(44) |
| Buxbaum et al 2007 | (6/6) | Only ASD patients who had macrocephaly, were analyzed for PTEN mutations | (6/35) | (35/35) | (47) |
|
Gail E Herman et al 2007 |
(2/2) | Only ASD patients who had macrocephaly, were analyzed for PTEN mutations |
(2/16) *3 |
(16/40) | (48) |
|
Orrico A 2008 |
(2/2) | Only ASD patients who had macrocephaly, were analyzed for PTEN mutations | (2/19) | (19/19) | (29) |
|
Varga MS 2009 |
(5/5) | First checked PTEN mutations in all autistic children with or without macrocephaly then head circumferences were analyzed | (5/60) | (27/60) | (49) |
|
O'Roak et al 2012 |
(3/3) | First checked PTEN mutations in all autistic children with or without macrocephaly then head circumferences were analyzed | (3/2446) |
*2 ? |
(43) |
| Vanderver et al 2012 | (7/7) | Only ASD patients who had macrocephaly, were analyzed for PTEN mutations | (7/7) | (7/7) | (26) |
| Marchese et al 2014 | (1/1) | Only ASD patients who had macrocephaly, were analyzed for PTEN mutations | (1/31) | (31/81) | (14) |
|
Hobert et al 2014 |
(6/6) | Only ASD patients who had macrocephaly, were analyzed for PTEN mutations | (6/22) | (22/49) | (52) |
| Results | 35/35 | 77% (7 out of 9) of the articles have assessed PTEN mutations in autistic children with high head circumference (more than 2SD away from the mean), but PTEN mutations in other ASD patients without macrocephaly, have not been analyzed. | 35/2654 |
?/2755 *2 |
*1- All patients had macrocephaly
*2- There was no information about head circumference in other patients without mutations.
*3- In this article PTEN was sequenced in 16 individuals with macrocephaly.