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

被引：159

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

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