SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

被引：162

作者：

Gilfillan, Gregor D. ^{[1
,2
]}

Selmer, Kaja K. ^{[1
,2
]}

Roxrud, Ingrid ^{[3
]}

Smith, Raffaella ^{[4
]}

Kyllerman, Marten ^{[5
]}

Eiklid, Kristin ^{[2
]}

Kroken, Mette ^{[2
]}

Mattingsdal, Morten ^{[2
]}

Egeland, Thore ^{[2
]}

Stenmark, Harald ^{[3
]}

Sjoholm, Hans ^{[6
]}

Server, Andres ^{[7
]}

Samuelsson, Lena ^{[8
]}

Christianson, Arnold ^{[9
,10
]}

Tarpey, Patrick ^{[4
]}

Whibley, Annabel ^{[11
]}

Stratton, Michael R. ^{[4
]}

Futreal, P. Andrew ^{[4
]}

Teague, Jon ^{[4
]}

Edkins, Sarah ^{[4
]}

Gecz, Jozef ^{[12
]}

Turner, Gillian ^{[13
]}

Raymond, F. Lucy ^{[11
]}

Schwartz, Charles ^{[14
]}

Stevenson, Roger E. ^{[14
]}

Undlien, Dag E. ^{[1
,2
]}

Stromme, Petter ^{[1
,15
]}

机构：

[1] Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, Norway

[2] Ullevaal Univ Hosp, Dept Med Genet, NO-0407 Oslo, Norway

[3] Ullevaal Univ Hosp, Rikshosp, Radium Hosp Med Ctr, Inst Canc Res,Dept Biochem, NO-0310 Oslo, Norway

[4] Wellcome Trust Sanger Inst, Canc Genome Project, Cambridge CB10 1SA, England

[5] Gothenburg Univ, Queen Silvia Childrens Hosp, S-41685 Gothenburg, Sweden

[6] Ullevaal Univ Hosp, Dept Neurol, Sect Neurophysiol, NO-0407 Oslo, Norway

[7] Ullevaal Univ Hosp, Dept Neuroradiol, NO-0407 Oslo, Norway

[8] Gothenburg Univ, Sahlgrens Univ Hosp, Dept Clin Genet, S-41685 Gothenburg, Sweden

[9] Univ Witwatersrand, ZA-2000 Johannesburg, South Africa

[10] Natl Hlth Lab Serv, Div Human Genet, ZA-2000 Johannesburg, South Africa

[11] Cambridge Inst Med Res, Cambridge CB2 0XY, England

[12] Womens & Childrens Hosp, Dept Med Genet, Neurogenet Lab, Adelaide, SA 5006, Australia

[13] Hunter Genet & Univ Newcastle, Newcastle, NSW 2300, Australia

[14] Greenwood Genet Ctr, JC Self Res Inst Genet, Greenwood, SC 29646 USA

[15] Ullevaal Univ Hosp, Dept Pediat, NO-0407 Oslo, Norway

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 82卷 / 04期

基金：

英国惠康基金;

关键词：

D O I：

10.1016/j.ajhg.2008.01.013

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na+/H+ exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

引用

页码：1003 / 1010

页数：8

共 50 条

[31] The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation
Puusepp, H.
Kall, K.
Salomons, G. S.
Talvik, I.
Maennamaa, M.
Rein, R.
Jakobs, C.
Ounap, K.
JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S5 - S11
[32] Mutations in the polyglutamine-binding protein 1 gene cause X-linked mental retardation.
Kalscheuer, VM
Freude, K
Jensen, LJ
Musante, L
Yntema, HG
Gécz, J
Sefiani, A
vanBokhoven, H
Turner, G
Chelly, J
Moraine, C
Fryns, JP
Nuber, U
Hoeltzenbein, M
Scharff, C
Scherthan, H
Lenzner, S
Hamel, B
Schweiger, S
Ropers, HH
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 164 - 164
[33] Mutations in the DLG3 gene cause non-syndromic X-linked mental retardation
Raymond, FL
Tarpey, P
Parnau, J
Blow, M
Bignell, G
Cox, J
Partington, M
Turner, G
Stevenson, R
Schwartz, C
Young, I
Futreal, PA
Stratton, MR
Gecz, J
Wooster, R
JOURNAL OF MEDICAL GENETICS, 2004, 41 : S18 - S18
[34] Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation
Mandel, JL
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (04) : 730 - 731
[35] MUTATIONS IN A PUTATIVE GLOBAL TRANSCRIPTIONAL REGULATOR CAUSE X-LINKED MENTAL-RETARDATION WITH ALPHA-THALASSEMIA (ATR-X SYNDROME)
GIBBONS, RJ
PICKETTS, DJ
VILLARD, L
HIGGS, DR
CELL, 1995, 80 (06) : 837 - 845
[36] Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F. Lucy
Tarpey, Patrick S.
Edkins, Sarah
Tofts, Calli
O'Meara, Sarah
Teague, Jon
Butler, Adam
Stevens, Claire
Barthorpe, Syd
Buck, Gemma
Cole, Jennifer
Dicks, Ed
Gray, Kristian
Halliday, Kelly
Hills, Katy
Hinton, Jonathon
Jones, David
Menzies, Andrew
Perry, Janet
Raine, Keiran
Shepherd, Rebecca
Small, Alexandra
Varian, Jennifer
Widaa, Sara
Mallya, Uma
Moon, Jenny
Luo, Ying
Shaw, Marie
Boyle, Jackie
Kerr, Bronwyn
Turner, Gillian
Quarrell, Oliver
Cole, Trevor
Easton, Douglas F.
Wooster, Richard
Bobrow, Martin
Schwartz, Charles E.
Gecz, Jozef
Stratton, Michael R.
Futreal, P. Andrew
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (05) : 982 - 987
[37] Mutations in the creatine transporter gene (SLC6A8) in Xq28 cause X-linked mental retardation: The important role of creatine metabolism in brain function
Schwartz, CE
Hahn, KA
Salomons, GS
Tackels-Horne, D
Wood, TC
Taylor, HA
Schroer, RJ
Lubs, HA
Jakobs, C
Olson, RL
Holden, KR
Stevenson, RE
EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 64 - 64
[38] LINKAGE STUDIES WITH THE GENE FOR AN X-LINKED SYNDROME OF MENTAL-RETARDATION, MICROCEPHALY AND SPASTIC DIPLEGIA (MRX2)
SUTHERLAND, GR
GEDEON, AK
HAAN, EA
WOODROFFE, P
MULLEY, JC
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 30 (1-2): : 493 - 508
[39] Mutations in the RSK2 (RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation
Field, M.
Tarpey, P.
Boyle, J.
Edkins, S.
Goodship, J.
Luo, Y.
Moon, J.
Teague, J.
Stratton, M. R.
Futreal, P. A.
Wooster, R.
Raymond, F. L.
Turner, G.
CLINICAL GENETICS, 2006, 70 (06) : 509 - 515
[40] Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome
Budny, B.
Badura-Stronka, M.
Materna-Kiryluk, A.
Tzschach, A.
Raynaud, M.
Latos-Bielenska, A.
Ropers, H. H.
CLINICAL GENETICS, 2010, 77 (06) : 541 - 551

← 1 2 3 4 5 →