Supplemental Table: Clinical Findings in Probands and Family Members with TGIF alterations
Patient Mutation, HPE Mic Sz Hypopit. Hypotelorism Hypertelorism NPAS Midface Cleft SCMI Additional Extra-neuro Reference
Protein Type flattening L/P Craniofacial findings
alteration Findings
c.83C>G, + - - + - + - - + Agenesis CC - Gripp et al
1a p.S28C Mic 2000.
c.83C>G, - - - + - - - - - - - Gripp et al
1b p.S28C Mic 2000.
c.83C>G, - - - + - - - - - - - Gripp et al
1c p.S28C Mic 2000.
c.91G>C, + - - - - + - - + - -
2a p.A31P U This report
c.91G>C, - - - - - - - - - - -
2b p.A31P None This report
c.132G>T, + - - - - - + + - Hyperthermia -
p.K44N Breathing diff.
Maxillary Richieri-
hypoplasia Costa et al
3a L Large ears 2008
c.132G>T, - - - - - - - - - - - Richieri-
p.K44N Costa et al
3b None 2008
c.133G>T, + + + - - - + + - Abnormal -
p.E45X ventricles,
hypothalamic and El-Jaick at al
4 L caudate fusion, 2007
c.228C>A, ? ? ? ? ? ? ? ? ? ? ? El-Jaick at al
5 p.H76Q U 2007
c.140_141de + - + - - - + + - Dystonia -
lTG/c.228C> Absent olfactory
A, tracts, premaxillary
p.S46fs, dysgensis El-Jaick at al
6a p.H76Q S 2007
c.228C>A, - - - - - - - - - Hypothyroidism - El-Jaick at al
6b p.H76Q None 2007
c.140_141de - - - - - - - - - Hypothyroidism -
lTG, El-Jaick at al
6c p.S46fs None 2007
c.177C>G, + - - + - - + - - Cebocephaly - Aguilella et
7a p.Y59X S turricephaly al 2003 .
c.177C>G, - - - + - - - + - - - Aguilella et
7b p.Y59X Mic al 2003 .
c.187C>G, - - + - - - - + - - - Gripp et al
8 p.P63R L 2000.
c.257delT, ? ? ? ? ? ? ? ? ? ? ?
9a p.F86fs A This report
Supplemental Table: Clinical Findings in Probands and Family Members with TGIF alterations
c.257delT, - - - - - - - - - - -
9b p.F86fs None This report
c.268C>T, + ? ? + - - + + ? Brachycephaly - Chen CP et al
10 p.R90C A 2002
c.271C>T, ? - ? ? ? ? + ? ? - -
11a p.R91C S This report
c.271C>T, ? - ? ? ? ? + ? ? - -
11b p.R91C A This report
c.271C>T, - - - - - - - - - - -
11c p.R91C None This report
c.320A>T, ? ? ? ? ? ? ? ? ? ? ? Aguilella et
12a p.Q107L U al 2003
c.320A>T, + - - - - - - + - Mental retardation - Aguilella et
p.Q107L al 2003; El-
Jaick et al.,
12b U 2008
c.388T>C, - - - + - - - - - - - Chen M et al
13a p.V126A L 2006.
c.388T>C, ? ? ? ? ? ? ? ? ? ? ? Chen M et al
13b p.V126A S 2006.
c.388T>C, ? ? ? ? ? ? ? ? ? ? ? Chen M et al
13c p.V126A L 2006.
c.388T>C, - - - + - - - - - Circle of Willis - Chen M et al
13d p.V126A Mic anomalies 2006.
c.436G>T,p. ? ? ? ? ? ? ? ? ? ? ?
14 A146S U This report
c.451C>G, + - - + - - + + - - -
p.T151A
(SHH:
c.1283_1291
del, Nanni et al.,
p.378_380de 1999; Gripp
15 l) S et al 2000.
c.485C>T, - - - - + - - + - Ethmoidal and -
p.S162F sphenoidal Gripp et al
encephaloceles; 2000.; El-
Agenesis CC Jaick et al
16a Mic 2007
c.485C>T, - - - - - - - - - - - Gripp et al
16b p.S162F None 2000.
c.778delC, ? ? ? ? ? ? ? ? ? ? ? El-Jaick et al
17a p.K259fs U 2007
c.778delC, - - - + - - - - - Anosmia - El-Jaick et al
17b p.K259fs Mic 2007
c.778delC, - + + - - + - - - Ectopic posterior GERD
18 p.K259fs L pituitary This report
Supplemental Table: Clinical Findings in Probands and Family Members with TGIF alterations
Small optic nerves
Gene - + + - - - - + - Schizencephaly -
deletion Optic hypoplasia Bendavid et
19 (FISH) A al., 2006
Gene ? ? ? ? ? ? ? ? ? ? ?
deletion Bendavid et
20 (MLPA) S al., 2009
del(18)(p111 + ? - + - + + + - - -
.23pter)
(SHH:
c.1270C>G, Nanni et al.,
21 p.P424A) S 1999
del(18)(p11. + - + - + + + - + Ectopic post. 5th finger
318pter) Pituitary clinodactyly Portnoi et al,
22a Mic Diffuse hypotonia 2007
del(18)(p11. + - - - - - + - + Nasal obstruction -
318pter) managed with Portnoi et al,
22b Mic surgery 2007
del(18)(p11. ? ? ? - - - - ? ? Arrhinencephaly TOF, uterus
118pter) Proboscis and vagina
Iris colobomata duplex,
synophthalmia syndactylia Kuchle et al,
23 U 1991
del(18)(p11 - - - - - - + - + Dolichocephaly 5th finger
18pter) Uplanting palpebral clinodactyly,
fissures with syndactyly of
epicanthal folds, toes
prom. Median
palatal raphe, Morales-
dental carries, large Peralta, et al,
24 Mic ears 1983
del(18)(p11 ? ? + ? ? ? ? ? + ? ? Boudailliez
25 18pter) U et al, 1983
del(18)(p) + - - - + - + + - Muscular Broad chest
(1/2 of 18p) hypotonia,
microretrognathia,
large protruding Faust et al,
26 U ears 1976
del(18)(p) + ? ? + - ? + + ? Arrhinencephaly VSD,
(3/4 of 18p) ,missing inferior malformation
vermis of of spleen
cerebellum, Faust et al,
27 L muscular hypotonia 1976
del(18)(p) ? - - - - - - - + Long philtrum, 5th finger
small nose, thick clinodactyly, Aughton et
28 Mic pinnae single al, 1991
Supplemental Table: Clinical Findings in Probands and Family Members with TGIF alterations
transverse
palmar
creases
del(18)(p) - - - - - - - - + Downslanting
palpebral fissures,
epicanthal folds,
torus palatinus,
nose with short
columnella and Dolan et al,
29 Mic hypoplastic alae 1981
arr(18): + ? + ? ? ? ? + ? ?
140,284- “Midline defects” Rosenfeld et
30 14,065,199 L al., 2010
arr(18): chr + ? _ _ _ _ _ _ _ _ ?
18: 5,982- Rosenfeld et
31 14,065,199 Mic al., 2010
arr(18): chr + ? - - - - - - - - ?
18: 5,982- Rosenfeld et
32 14,065,199 Mic al., 2010
arr(18): - ? - - - - - + - - ?
102,328- Rosenfeld et
33 15,079,388 Mic al., 2010
arr(18): - ? - + - - - + - - ?
140,284- Rosenfeld et
34 10,600,909 Mic al., 2010
arr(18): ? ? ? ? ? ? ? ? ? ? ?
5,982- Rosenfeld et
35 4,974,551 U al., 2010
arr(18): + ? + - - - - - + Bifid uvula ?
5,982- Rosenfeld et
36 4,974,551 Mic al., 2010
Del(18)(p11. ? - ? ? ? - + - ? Proboscis - Sepulveda et
37 2pter) A al., 2009
Gene ? ? ? ? ? ? ? ? ? ? ?
deletion
38 (aCGH) Mic This report
CC: Corpus Callosum; GERD: Gastroesophageal reflux disease; M: Microcephaly ; S: Seizures; Hypopit: Hypopituitarism; NPAS: Nasal Pyriform Aperature Stenosis; SCMI: Single Central Maxillary
Incisor; TOF: Tetralogy of Fallot; VSD: Ventricular Septal Defect