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Supplementary Table. 1: Published cases of recessive mutations uncovered by hemizygosity due to a de novo deletion
---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------phenotype
unmasked
gene
mutation
parental origin
deletion
deletion
parental origin
reference
of proband
gene
location
of mutation
size (Mb)
of deletion
----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------Prader-Willi syndrome;
OCA2
15q12-q13.1
p.Val443I le
mother is hetero- del(15)(q11.2q13.1)
n.d.
paternal
Lee et al. 1994
oculocutaneous albinism
c.1327G>A
zygous carrier
VCF/DiGeorge syndrome;
Bernard-Soulier syndrome
GP1BB
22q11.21
c.-133C>G
n.d.
del(22)(q11.2q11.2)
n.d.
n.d.
Ludlow et al.
1996
pseudoachondroplasia
hypothetical
gene
11q21-q22.2
n.d.
n.d.
del(11)(q21q22.2)
0.8 - 7.3
n.d.
Ikegawa et al.
1998
MR; retinoblastoma;
Wilson disease
ATP7B
13q14.3
n.d.
n.d.
del(13)(q14.2q21.1)
n.d.
n.d.
Riley et al. 2001
Smith-Magenis syndrome;
sensorineural hearing loss
MYO15A
17p11.2
p.Thr2205Ile
c.6614C>T
mother is heterozygous carrier
del(17)(p11.2p11.2)
n.d.
paternal
Liburd et al. 2001
Angelman syndrome;
oculocutaneous albinism
OCA2
15q12-q13.1
c.647-?_807+?del father is hetero(deletion exon 7) zygous carrier
del(15)(q11.2q13.1)
~5
maternal
Fridman et al.
2003
Williams syndrome; chronic
granulomatous disease
NCF1
7q11.23
p.Tyr26fs
c.75-76del
n.d.
del(7)(q11.23q11.23)
n.d.
n.d.
Kabuki et al.
2003
Sotos syndrome; reduced
F12
coagulation factor 12 activity
5q35.3
c.-4C>T
(rs1801020)
n.d.
del(5)(q35.3q35.3)
2.2
n.d.
Kurotaki et al.
2005
22q11 deletion syndrome;
psychotic disorder
COMT
22q11.21
p.Val158Met
c.472G>A
n.d.
del(22)(q11.2q11.2)
n.d.
n.d.
Gothelf et al.
2005
Wolf-Hirschhorn syndrome;
Wolframin syndrome
WFS1
4p16.1
p.Gln366X
c.1096C>T
mother is heterozygous carrier
inv dup del(4)(:p15.33→
p16.1::p16.1→qter)
8.3
paternal
Flipsen-ten Berg
et al. 2007
22q13 del.syndrome; metachromatic leukodystrophy
ARSA
22q13.33
p.Pro426Leu
c.1277C>T
n.d.
.ish cgh dup(13)(q22qter),
del(22)(q13.2qter)
~8
n.d.
Bisgaard et al.
2009
oculocutaneous albinism
OCA2
15q12-q13.1
p.AlaA334Val
n.d.
del(15)(q13.1q13.1)
0.2
maternal
Rooryck et al.
c.1001C>T
2011
----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------
Abbreviations: MR refers to mental retardation; VCF is velocardiofacial syndrome; n.d. = not determined.
References for Supplementary Table 1
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deletion syndrome and metachromatic leukocystrophy. Clin Genet 75, 175-179.
Flipsen-ten Berg, K., van Hasselt, P.M., Eleveld, M.J., van der Wijst, S.E., Hol, F.A., de Vroede, M.A., Beemer, F.A., Hochstenbach, P.F., Poot, M. (2007)
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. Eur J Hum Genet, 15,
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Fridman, C., Hosomi, N., Varela, M.C., Souza, A.H., Fukai, K., Koiffmann, C.P. (2003) Angelman syndrome associated with oculocutaneous albinism due to
an intragenic deletion of the P gene. Am J Med Genet Part A,119A,180–183.
Ghai SJ, Shago M, Shroff M, Yoon G. (2011) Cockayne syndrome caused by paternally inherited 5Mb deletion of 10q11.2 and a frameshift mutation of
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