Table S4 – Listing of provisional XLMR genes i.e. genes that were identified solely on the basis of one cytogenetic abnormality or
by the identification of missense mutations. Genes are ordered according to their position on the X chromosome and we
consider them as unconfirmed until further proof.
Mb
altered in
type of mutation
reference
Xp11.4
41.66-41.26
ZNF673
Xp11.3
46.19-46.22
FGS4 (Table S1)
also in Aldred #300578
(Table S2)
missense in one family
microdeletion involving
also ZNF674
[1]
[2,3]
-
EFHC2
Xp11.3
44.1-43.9
MRX
missense in one family
[4]
-
ZNF630
Xp11.23
47.81-47.71
8 families
recurrent deletion
[5]
*300649
SLC38A5
Xp11.23
48.21-48.20
three brothers
[6]
*300286
-
KLF8/ZNF741
BRAF2
OST6/IAP
Xp11.21
Xq13.3
Xq21.1
56.27-56.33
74.71
77.04-76.97
*300576
ZDHHC15
Xq13.3
74.50-74.66
one female patient
one male patient
MRX
one female indicated as
MRX91 (Table S3)
microdeletion involving
also FTSJ1
t(X;21)(p11.2;q22.3)
small deletion (<2 kb)
missense in one family
t(X;15)(q13.3;cen)
balanced translocation
OMIM
Gene name
*300172
CASK
*300585
Locus
[7]
[8]
[9]
[10] and OMIM #300577
References for Table S4:
[1] Piluso G, D'Amico F, Saccone V, Rotundo L, Nigro V (2007) A missense mutation in CASK gene causes FG syndrome in an
Italian FGS family. Abstract P58 in the Proceedings of the 13th International Workshop on Fragile X and X-linked mental
retardation, Venice (Italy), 3-6 October 2007
[2] Lugtenberg D, Yntema HG, Banning MJG, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH,
Chelly J, Moraine C, Gecz J, van Reeuwijk J, Nabuurs SB, de Vries BBA, Hamel BCJ, de Brouwer APM, van Bokhoven H
(2006) ZNF674: a new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental
retardation. Am J Hum Genet 78:265-278.
[3] Zhang L, Wang T, Wright AF, Suri M, Schwartz CE, Stevenson RE, Valle D (2006) A microdeletion in Xp11.3 accounts for cosegregation of retinitis pigmentosa and mental retardation in a large kindred. Am J Med Genet 140A:349-357.
[4] de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG,
Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu
T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer
VM, Ropers HH, Hamel BC (2007) Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX
consortium. Hum Mutat 28:207-208.
[5] Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Ullmann R, Vianna-Morgante AM, Oudakker A, Chelly J, Froyen G, Fryns JP,
Ropers HH, Moraine C, Hamel BJC, de Brouwer APM, van Bokhoven H, Rosenberg C (2007) A recurrent deletion of ZNF630
and SSX6 in Xp11.23: a risk factor for mental retardation? Abstract 17 in the Proceedings of the 13th International Workshop
on Fragile X and X-linked mental retardation, Venice (Italy), 3-6 October 2007
[6] Froyen G, Bauters M, Boyle J, Van Esch H, Govaerts K, van Bokhoven H, Ropers HH, Moraine C, Chelly J, Fryns JP, Marynen
P, Gecz J, Turner G (2007) Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation
due to a microdeletion in an unstable genomic region. Hum Genet 121:539-547.
[7] Lossi AM, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei MG, Croquette MF, Villard L (2002)
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3)
and non-syndromic mental retardation. J Med Genet 39:113-117.
[8] Kousoulidou L, Bashiardes S, van Bokhoven H, Ropers H, Chelly J, Moraine C, de Brouwer A, Van Esch H, Froyen G, Patsalis
PC (2007) Development and validation of the “chromosome X exon-specific array” and screening of 20 XLMR families: a
targeted approach to identify genes associated with XLMR. Abstract 20 in the Proceedings of the 13th International Workshop
on Fragile X and X-linked mental retardation, Venice (Italy), 3-6 October 2007
[9] Molinari F, Foulquier F, Morelle W, Romano S, de Lonlay P, Tarpey PS, Teague J, Edkins S, Futreal PA, Stratton MR,
Partington M, Matthijs G, Turner G, Gecz J, Munnich A, Colleaux L (2007) Oligosaccharyltransferase subunits mutations in
non-syndromic mental retardation. Abstract 71 in the Proceedings of the 13th International Workshop on Fragile X and Xlinked mental retardation, Venice (Italy), 3-6 October 2007
[10] Mansouri MR, Marklund L, Gustavsson P, Davey E, Carlsson B, Larsson C, White I, Gustavson KH, Dahl N (2005) Loss of
ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. Eur J Hum
Genet 13:970-977.
Please note that the book of the Abstracts presented at the 13th International Workshop on Fragile X and X-linked mental
retardation (2007) is available online at the XLMR update web site (http://xlmr.interfree.it/home.htm).