Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

被引：208

作者：

Najm, Juliane ^{[1
]}

Horn, Denise ^{[2
]}

Wimplinger, Isabella ^{[1
]}

Golden, Jeffrey A. ^{[3
,4
]}

Chizhikov, Victor V.

Sudi, Jyotsna ^{[5
]}

Christian, Susan L. ^{[5
]}

Ullmann, Reinhard ^{[6
]}

Kuechler, Alma ^{[7
]}

Haas, Carola A. ^{[8
]}

Flubacher, Armin ^{[8
]}

Charnas, Lawrence R. ^{[9
]}

Uyanik, Goekhan ^{[10
]}

Frank, Ulrich ^{[11
]}

Klopocki, Eva ^{[2
]}

Dobyns, William B. ^{[12
,13
]}

Kutsche, Kerstin ^{[1
]}

机构：

[1] Univ Klinikum Hamburg Eppendorf, Inst Humangenet, D-20246 Hamburg, Germany

[2] Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

[3] Childrens Hosp Philadelphia, Dept Pathol, Philadelphia, PA 19104 USA

[4] Univ Penn, Sch Med, Philadelphia, PA 19104 USA

[5] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[6] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[7] Univ Klinikum Essen, Inst Human Genet, D-45122 Essen, Germany

[8] Univ Freiburg, Expt Epilepsy Res Grp, Neuroctr, D-79106 Freiburg, Germany

[9] Univ Minnesota, Dept Pediat, Div Clin Neurosci, Minneapolis, MN 55455 USA

[10] Univ Regensburg, Dept Neurol, D-93053 Regensburg, Germany

[11] Sozialpadiatr Zentrum, Stadt Klinikum Braunschweig, D-38118 Braunschweig, Germany

[12] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA

[13] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA

来源：

NATURE GENETICS | 2008年 / 40卷 / 09期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/ng.194

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.

引用

页码：1065 / 1067

页数：3

共 50 条

[1] Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Juliane Najm
Denise Horn
Isabella Wimplinger
Jeffrey A Golden
Victor V Chizhikov
Jyotsna Sudi
Susan L Christian
Reinhard Ullmann
Alma Kuechler
Carola A Haas
Armin Flubacher
Lawrence R Charnas
Gökhan Uyanik
Ulrich Frank
Eva Klopocki
William B Dobyns
Kerstin Kutsche
Nature Genetics, 2008, 40 : 1065 - 1067
[2] Correction: Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Juliane Najm
Denise Horn
Isabella Wimplinger
Jeffrey A Golden
Victor V Chizhikov
Jyotsna Sudi
Susan L Christian
Reinhard Ullmann
Alma Kuechler
Carola A Haas
Armin Flubacher
Lawrence R Charnas
Gökhan Uyanik
Ulrich Frank
Eva Klopocki
William B Dobyns
Kerstin Kutsche
Nature Genetics, 2008, 40 : 1384 - 1384
[3] Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (vol 40, pg 1065, 2008)
Najm, Juliane
Horn, Denise
Wimplinger, Isabella
Golden, Jeffrey A.
Chizhikov, Victor V.
Sudi, Jyotsna
Christian, Susan L.
Ullmann, Reinhard
Kuechler, Alma
Haas, Carola A.
Flubacher, Armin
Charnas, Lawrence R.
Uyanik, Goekhan
Frank, Ulrich
Klopocki, Eva
Dobyns, William B.
Kutsche, Kerstin
NATURE GENETICS, 2008, 40 (11) : 1384 - 1384
[4] CASK: a scaffold protein involved in X-linked brain malformation phenotypes
Sanders, S. S.
CLINICAL GENETICS, 2009, 75 (04) : 320 - 320
[5] CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
Anna Hackett
Patrick S Tarpey
Andrea Licata
James Cox
Annabel Whibley
Jackie Boyle
Carolyn Rogers
John Grigg
Michael Partington
Roger E Stevenson
John Tolmie
John RW Yates
Gillian Turner
Meredith Wilson
Andrew P Futreal
Mark Corbett
Marie Shaw
Jozef Gecz
F Lucy Raymond
Michael R Stratton
Charles E Schwartz
Fatima E Abidi
European Journal of Human Genetics, 2010, 18 : 544 - 552
[6] CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
Hackett, Anna
Tarpey, Patrick S.
Licata, Andrea
Cox, James
Whibley, Annabel
Boyle, Jackie
Rogers, Carolyn
Grigg, John
Partington, Michael
Stevenson, Roger E.
Tolmie, John
Yates, John R. W.
Turner, Gillian
Wilson, Meredith
Futreal, Andrew P.
Corbett, Mark
Shaw, Marie
Gecz, Jozef
Raymond, F. Lucy
Stratton, Michael R.
Schwartz, Charles E.
Abidi, Fatima E.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (05) : 544 - 552
[7] An X-linked microcephaly syndrome caused by disruptions of CASK implicates the CASK-TBR1-RELN pathway in human brain development
Bailey, Kathleen A.
Aldinger, Kimbery A.
CLINICAL GENETICS, 2009, 75 (05) : 424 - 425
[8] Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
Zanni, G
Saillour, Y
Nagara, M
Billuart, P
Castelnau, L
Moraine, C
Faivre, L
Bertini, E
Durr, A
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Rodriguez, D
des Portes, V
Beldjord, C
Chelly, J
NEUROLOGY, 2005, 65 (09) : 1364 - 1369
[9] SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Gilfillan, Gregor D.
Selmer, Kaja K.
Roxrud, Ingrid
Smith, Raffaella
Kyllerman, Marten
Eiklid, Kristin
Kroken, Mette
Mattingsdal, Morten
Egeland, Thore
Stenmark, Harald
Sjoholm, Hans
Server, Andres
Samuelsson, Lena
Christianson, Arnold
Tarpey, Patrick
Whibley, Annabel
Stratton, Michael R.
Futreal, P. Andrew
Teague, Jon
Edkins, Sarah
Gecz, Jozef
Turner, Gillian
Raymond, F. Lucy
Schwartz, Charles
Stevenson, Roger E.
Undlien, Dag E.
Stromme, Petter
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) : 1003 - 1010
[10] Correction: Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
Anna Hackett
Patrick S Tarpey
Andrea Licata
James Cox
Annabel Whibley
Jackie Boyle
Carolyn Rogers
John Grigg
Michael Partington
Roger E Stevenson
John Tolmie
John R W Yates
Gillian Turner
Meredith Wilson
Andrew P Futreal
Mark Corbett
Marie Shaw
Jozef Gecz
F Lucy Raymond
Michael R Stratton
Charles E Schwartz
Fatima E Abidi
European Journal of Human Genetics, 2010, 18 (5) : 552 - 552

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