Supplementary table 3: Novel non-synonymous and nonsense variants identified in the 30 candidate genes analysed by direct sequencing mapping to 3q22. The predicted impact that these may have and the prevalence of the mutations in the families sequences is also listed.

Gene / Position / Grantham Score / Polyphen
prediction / Information
A4GNT / G51S / Conservative / Benign / Identified in 1 of 3 affected individuals from 1 family.
V71I / Conservative / Benign / Identified in proband case and in 3.5% of controls.
H214Q / Conservative / Possibly damaging / Identified in 3 of 3 affected individuals from 1 family.
Also present in 0.1% of controls.
H256Y / Moderately
conservative / Possibly damaging / Identified in proband case.
R266X / Identified in 4/5 affected family members.
Also present in 0.1% of controls.
AMOTL2 / R173Q / Conservative / Benign / Identified in 1 of 3 affected individuals from 1 family.
Q426H / Conservative / Benign / Identified in 3 proband cases from 3 families.
P744L / Moderately
conservative / Benign / Identified in 1 of 2 affected individuals from 1 family.
Identified in proband case.
ARMC8 / C261Y / Radical / Probably damaging / Identified in proband case.
A432E / Moderately
radical / Possibly damaging / Identified in proband case.
CEP63 / Q185H / Conservative / Probably damaging / Identified in 3 proband cases from 3 families.
Identified in 1 of 2 affected individuals from 2 families.
Identified in 2 of 2 affected individuals from 1 family.
CEP70 / M398L / Moderately
conservative / Probably damaging / Identified in 1 of 2 affected individuals from 1 family.
L509H / Moderately
radical / Probably damaging / Identified in 1 of 2 affected individuals from 1 family.
CLDN18 / M1V / Conservative / Probably damaging / Identified in proband case.
V12M / Conservative / Benign / Identified in 2 proband cases from 2 families.
Identified in 2 of 2 affected individuals from 1 family.
V88I / Conservative / Benign / Identified in 1 of 2 affected individuals from 1 family.
DBR1 / D349G / Moderately
conservative / Probably damaging / Identified in 1 of 3 affected individuals from 1 family.
DZIP1L / R447C / Radical / Possibly damaging / Identified in 2 of 2 affected individuals from 1 family.
G595E / Moderately
Conservative / Benign / Identified in 3 proband cases from 3 families.
Identified in 1 of 2 affected individuals from 3 families.
Identified in 3 of 3 affected individuals from 1 family.
(AK126846) / S13P / Moderately
conservative / Unknown effect / Identified in 1 of 2 affected individuals from 1 family.
EPHB1 / M18V / Conservative / Benign / Identified in proband case.
FAM62C / R222W / Moderately
radical / Probably damaging / Identified in 1 of 2 affected individuals from 1 family.
G306R / Moderately
radical / Probably damaging / Identified in 1 of 2 affected individuals from 1 family.
D430N / Conservative / Benign / Identified in proband case.
Identified in 1 of 2 affected individuals from 1 family.
Identified in 3 of 3 affected individuals from 1 family.
L640P / Moderately
conservative / Benign / Identified in proband case.
FNDC6 / I103V / Conservative / Benign / Identified in 3 of 3 affected individuals from 1 family.
KY / M360L / Moderately
conservative / Benign / Identified in 2 of 2 affected individuals from 1 family.
M540V / Conservative / Possibly damaging / Identified in 1 of 3 affected individuals from 1 family.
MRPS22 / H247Q / Conservative / Probably damaging / Identified in 1 of 2 affected individuals from 1 family.
R263C / Radical / Probably damaging / Identified in 1 of 2 affected individuals from 1 family.
MSL2L1 / L182F / Conservative / Benign / Identified in proband case.
I534T / Moderately
conservative / Possibly damaging / Identified in 2 of 2 affected individuals from 1 family.
S540N / Conservative / Benign / Identified in 1 of 2 affected individuals from 1 family.
NCK1 / E27G / Moderately
conservative / Probably damaging / Identified in proband case.
PCCB / C291Y / Radical / Possibly damaging / Identified in 3 of 3 affected individuals from 1 family.
PIK3CB / D170N / Conservative / Benign / Identified in proband case.
PPP2R3A / G78R / Moderately
radical / Possibly damaging / Identified in proband case.
M523V / Conservative / Possibly damaging / Identified in 1 of 2 affected individuals from 1 family.
A532V / Moderately
conservative / Benign / Identified in 2 of 2 affected individuals from 1 family.
RYK / A552T / Moderately
conservative / Benign / Identified in 1 of 2 affected individuals from 1 family.
SOX14 / T189M / Moderately
conservative / Possibly damaging / Identified in 1 of 3 affected individuals from 1 family.
STAG1 / T722A / Moderately
conservative / Benign / Identified in 1 of 3 affected individuals from 1 family.
TMEM22 / I188V / Conservative / Benign / Identified in 1 of 2 affected individuals from 1 family.
TOPBP1 / R222C / Radical / Probably damaging / Identified in 3 proband cases from 3 families.
Identified in 1 of 2 affected individuals from 2 families.
Identified in 1 of 3 affected individuals from 2 families.
Identified in 2 of 3 affected individuals from 1 family.
Identified in 2 of 2 affected individuals from 1 family.
R926Q / Conservative / Benign / Identified in proband case.
TXNDC6 / - / No novel variant identified.
ANAPC13 / - / No novel variant identified.
MRAS / - / No novel variant identified.
NMNAT / - / No novel variant identified.
FAIM / - / No novel variant identified.
MBD4 / - / No novel variant identified.
GSK3b / - / No novel variant identified.