A de novo p.Asp18Asn Mutation in TREX1 in a Patient With Aicardi-Goutieres Syndrome

被引：36

作者：

Haaxma, Charlotte A. ^{[1
]}

Crow, Yanick J. ^{[2
]}

van Steensel, Maurice A. M. ^{[3
]}

Lammens, Martin M. Y. ^{[1
,4
]}

Rice, Gillian I. ^{[2
]}

Verbeek, Marcel M. ^{[1
,5
]}

Willemsen, Michel A. A. P. ^{[1
,6
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Neurol, NL-6500 HB Nijmegen, Netherlands

[2] Univ Manchester, Dept Med Genet, Manchester Acad Hlth Sci Ctr, Cent Manchester Fdn Trust Univ Hosp, Manchester, Lancs, England

[3] Maastricht Univ Med Ctr, GROW Sch Oncol & Dev Biol, Dept Dermatol, Expt Dermatol Lab, Maastricht, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Dept Pathol, NL-6500 HB Nijmegen, Netherlands

[5] Radboud Univ Nijmegen, Med Ctr, Dept Lab Med, NL-6500 HB Nijmegen, Netherlands

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

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 10期

关键词：

Aicardi-Goutieres syndrome; TREX1; IFN-alpha; chilblains; basal ganglia calcifications; RESPIRATORY-CHAIN DEFICIENCY; FAMILIAL CHILBLAIN LUPUS; PHENOTYPE;

D O I：

10.1002/ajmg.a.33620

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Aicardi-Goutieres syndrome is a rare, genetically determined encephalopathy often resembling congenital infection. Mutations in the TREX1 gene are found in approximately 25% of patients. Aicardi-Goutieres syndrome is usually inherited as an autosomal recessive trait, although a single case of a heterozygous TREX1 mutation associated with the syndrome has been reported. We present a second case of a de novo heterozygous TREX1 mutation causing an autosomal dominant phenotype of Aicardi-Goutieres syndrome with additional features indicative of mitochondrial dysfunction. This report serves to enhance awareness of de novo heterozygous mutations underlying Aicardi-Goutieres syndrome with a concomitant low risk of recurrence. (C) 2010 Wiley-Liss, Inc.

引用

页码：2612 / 2617

页数：6

共 9 条

[1] Respiratory chain deficiency in a female with Aicardi-Goutieres syndrome [J].

Barnérias, C ;

Giurgea, I ;

Hertz-Pannier, L ;

Bahi-Buisson, N ;

Boddaert, N ;

Rustin, P ;

Rotig, A ;

Desguerre, I ;

Munnich, A ;

de Lonlay, P .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2006, 48 (03) :227-230

[2] Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome -: A new phenotype [J].

Blau, N ;

Bonafé, L ;

Krägeloh-Mann, I ;

Thöny, B ;

Kierat, L ;

Häusler, M ;

Ramaekers, V .

NEUROLOGY, 2003, 61 (05) :642-647

[3] Respiratory chain deficiency in Aicardi-Goutieres syndrome [J].

Castro-Gago, Manuel ;

Gomez-Lado, Carmen ;

Eiris-Punal, Jesus .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2006, 48 (08) :701-701

[4] Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection [J].

Crow, Yanick J. ;

Livingston, John H. .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2008, 50 (06) :410-416

[5] Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus [J].

Lee-Kirsch, Min Ae ;

Gong, Maolian ;

Chowdhury, Dipanjan ;

Senenko, Lydia ;

Engel, Kerstin ;

Lee, Young-Ae ;

de Silva, Udesh ;

Bailey, Suzanna L. ;

Witte, Torsten ;

Vyse, Timothy J. ;

Kere, Juha ;

Pfeiffer, Christiane ;

Harvey, Scott ;

Wong, Andrew ;

Koskenmies, Sari ;

Hummel, Oliver ;

Rohde, Klaus ;

Schmidt, Reinhold E. ;

Dominiczak, Anna F. ;

Gahr, Manfred ;

Hollis, Thomas ;

Perrino, Fred W. ;

Lieberman, Judy ;

Huebner, Norbert .

NATURE GENETICS, 2007, 39 (09) :1065-1067

[6] A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus [J].

Lee-Kirsch, Min Ae ;

Chowdhury, Dipanjan ;

Harvey, Scott ;

Gong, Maoliang ;

Senenko, Lydia ;

Engel, Kerstin ;

Pfeiffer, Christiane ;

Hollis, Thomas ;

Gahr, Manfred ;

Perrino, Fred W. ;

Lieberman, Judy ;

Hubner, Norbert .

JOURNAL OF MOLECULAR MEDICINE-JMM, 2007, 85 (05) :531-537

[7]

Murr C, 1999, ANTICANCER RES, V19, P1721

[8] Clinical and molecular phenotype of Aicardi-Goutieres syndrome [J].

Rice, Gillian ;

Patrick, Teresa ;

Parmar, Rekha ;

Taylor, Claire F. ;

Aeby, Alec ;

Aicardi, Jean ;

Artuch, Rafael ;

Montalto, Simon Attard ;

Bacino, Carlos A. ;

Barroso, Bruno ;

Baxter, Peter ;

Benko, Willam S. ;

Bergmann, Carsten ;

Bertini, Enrico ;

Biancheri, Roberta ;

Blair, Edward M. ;

Blau, Nenad ;

Bonthron, David T. ;

Briggs, Tracy ;

Brueton, Louise A. ;

Brunner, Han G. ;

Burke, Christopher J. ;

Carr, Ian M. ;

Carvalho, Daniel R. ;

Chandler, Kate E. ;

Christen, Hans-Juergen ;

Corry, Peter C. ;

Cowan, Frances M. ;

Cox, Helen ;

D'Arrigo, Stefano ;

Dean, John ;

De laet, Corinne ;

De Praeter, Claudine ;

Dery, Catherine ;

Ferrie, Colin D. ;

Flintoff, Kim ;

Frints, Suzanna G. M. ;

Garcia-Cazorla, Angels ;

Gener, Blanca ;

Goizet, Cyril ;

Goutieres, Francoise ;

Green, Andrew J. ;

Gueet, Agnes ;

Hamel, Ben C. J. ;

Hayward, Bruce E. ;

Heiberg, Arvid ;

Hennekam, Raoul C. ;

Husson, Marie ;

Jackson, Andrew P. ;

Jayatunga, Rasieka .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (04) :713-725

[9] Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome [J].

Rice, Gillian ;

Newman, William G. ;

Dean, John ;

Patrick, Teresa ;

Parmar, Rekha ;

Flintoff, Kim ;

Robins, Peter ;

Harvey, Scott ;

Hollis, Thomas ;

O'Hara, Ann ;

Herrick, Ariane L. ;

Bowden, Andrew P. ;

Perrino, Fred W. ;

Lindahl, Tomas ;

Barnes, Deborah E. ;

Crow, Yanick J. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (04) :811-815

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