tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

被引：182

作者：

Budde, Birgit S. ^{[2
,3
]}

Namavar, Yasmin ^{[1
,4
]}

Barth, Peter G. ^{[4
]}

Poll-The, Bwee Tien ^{[4
]}

Nuernberg, Gudrun ^{[2
,3
]}

Becker, Christian ^{[2
,3
]}

van Ruissen, Fred ^{[1
]}

Weterman, Marian A. J. ^{[1
]}

Fluiter, Kees ^{[1
]}

Beek, Erik T. te ^{[1
]}

Aronica, Eleonora ^{[5
]}

van der Knaap, Marjo S. ^{[6
]}

Hoehne, Wolfgang ^{[7
]}

Toliat, Mohammad Reza ^{[2
,3
]}

Crow, Yanick J. ^{[8
]}

Steinlin, Maja ^{[9
]}

Voit, Thomas ^{[10
]}

Roelens, Filip ^{[11
]}

Brussel, Wim ^{[12
]}

Brockmann, Knut ^{[13
]}

Kyllerman, Marten ^{[14
]}

Boltshauser, Eugen ^{[15
]}

Hammersen, Gerhard ^{[16
]}

Willemsen, Michel ^{[17
]}

Basel-Vanagaite, Lina ^{[18
,19
]}

Kraegeloh-Mann, Ingeborg ^{[20
]}

de Vries, Linda S. ^{[21
]}

Sztriha, Laszlo ^{[22
]}

Muntoni, Francesco ^{[23
]}

Ferrie, Colin D. ^{[24
]}

Battini, Roberta ^{[25
]}

Hennekam, Raoul C. M. ^{[23
,26
]}

Grillo, Eugenio ^{[27
]}

Beemer, Frits A. ^{[28
]}

Stoets, Loes M. E. ^{[29
]}

Wollnik, Bernd ^{[30
,31
,32
,33
]}

Nuernberg, Peter ^{[2
,3
,30
,31
]}

Baas, Frank ^{[1
]}

机构：

[1] Univ Amsterdam, Dept Neurogenet, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

[2] Univ Cologne, Cologne Ctr Genom, D-50674 Cologne, Germany

[3] Univ Cologne, Inst Genet, D-50674 Cologne, Germany

[4] Univ Amsterdam, Div Pediat Neurol, Emma Childrens Hosp, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

[5] Univ Amsterdam, Dept Pathol, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

[6] Vrije Univ Amsterdam, Med Ctr, Dept Pediat & Child Neurol, NL-1081 HV Amsterdam, Netherlands

[7] Charite Univ Med Berlin, Inst Biochem, D-10117 Berlin, Germany

[8] St James Univ Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England

[9] Univ Hosp Bern, Dept Pediat Neurol, CH-3010 Bern, Switzerland

[10] Grp Hosp Pitie Salpetriere, Inst Myol, F-75651 Paris 13, France

[11] Heilig Hartziekenhuis, Dept Pediat, B-8800 Roeselare, Belgium

[12] Rijnstate Hosp, Dept Pediat, NL-6815 AD Arnhem, Netherlands

[13] Univ Gottingen, Dept Paediat & Child Neurol, D-37075 Gottingen, Germany

[14] Sahlgrens Univ Hosp, Queen Silvia Childrens Hosp, Dept Paediat, S-41685 Gothenburg, Sweden

[15] Univ Childrens Hosp, CH-8032 Zurich, Switzerland

[16] CNOPFsche Kinderklin, D-90419 Nurnberg, Germany

[17] Radboud Univ Nijmegen, Med Ctr, Dept Pediat Neurol, NL-6500 HB Nijmegen, Netherlands

[18] Schneider Childrens Med Ctr Israel, IL-49100 Petah Tiqwa, Israel

[19] Raphael Recanati Genet Inst, Rabin Med Ctr, IL-49100 Petah Tiqwa, Israel

[20] Univ Tubingen, Dept Paediat Neurol & Dev Med, D-72076 Tubingen, Germany

[21] Univ Med Ctr, Wilhelmina Childrens Hosp, Dept Neonatol, NL-3584 AE Utrecht, Netherlands

[22] Univ Szeged, Dept Paediat, H-6726 Szeged, Hungary

[23] UCL, Great Ormond St Hosp Children, Inst Child Hlth, London WC1N 1EH, England

[24] Gen Infirm, Leeds LS1 3EX, W Yorkshire, England

[25] Univ Pisa, Stella Maris Sci Inst, Div Child Neurol & Psychiat, I-56018 Calambrone Pisa, Italy

[26] Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands

[27] Hosp Infantil Joana de Gusmao, Dept Neurol, BR-88025301 Florianopolis, SC, Brazil

[28] Univ Med Ctr Utrecht, Dept Med Genet, NL-3584 AE Utrecht, Netherlands

[29] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[30] Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, D-50674 Cologne, Germany

[31] Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany

[32] Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

[33] Istanbul Univ, Istanbul Fac Med, Dept Med Genet, TR-34390 Istanbul, Turkey

来源：

NATURE GENETICS | 2008年 / 40卷 / 09期

关键词：

D O I：

10.1038/ng.204

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.

引用

页码：1113 / 1118

页数：6

共 19 条

[1] FATAL INFANTILE ENCEPHALOPATHY WITH OLIVOPONTOCEREBELLAR HYPOPLASIA AND MICRENCEPHALY - REPORT OF 3 SIBLINGS [J].