A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE MUTATION DETECTED PRENATALLY IN A FAMILY WITH BARTH SYNDROME

被引：3

作者：

Baksiene, M. ^{[1
,2
]}

Benusiene, E. ^{[1
,2
]}

Morkuniene, A. ^{[1
,2
]}

Ambrozaityte, L. ^{[1
,2
]}

Utkus, A. ^{[1
,2
]}

Kucinskas, V ^{[1
,2
]}

机构：

[1] Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania

[2] Vilnius Univ, Dept Human & Med Genet, Santariskiu Str 2, LT-08861 Vilnius, Lithuania

来源：

BALKAN JOURNAL OF MEDICAL GENETICS | 2016年 / 19卷 / 02期

关键词：

Barth Syndrome (BTHS); cardiomyopathy; Neutropenia; 3-Methylglutaconin aciduria; Tafazzin (TAZ) gene; G4.5; GENE; CARDIOMYOPATHY; NEUTROPENIA; PATIENT; XQ28;

D O I：

10.1515/bjmg-2016-0043

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c. 285-1G>C splice site mutation in intron 3 of the TAZ gene that was detected prenatally.

引用

页码：95 / 99

页数：5

共 20 条

[1] BARTH SYNDROME - CLINICAL-FEATURES AND CONFIRMATION OF GENE LOCALIZATION TO DISTAL XQ28 [J].

ADES, LC ;

GEDEON, AK ;

WILSON, MJ ;

LATHAM, M ;

PARTINGTON, MW ;

MULLEY, JC ;

NELSON, J ;

LUI, K ;

SILLENCE, DO .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (03) :327-334

[2] AN X-LINKED MITOCHONDRIAL DISEASE AFFECTING CARDIAC-MUSCLE, SKELETAL-MUSCLE AND NEUTROPHIL LEUKOCYTES [J].

BARTH, PG ;

SCHOLTE, HR ;

BERDEN, JA ;

VANDERKLEIVANMOORSEL, JM ;

LUYTHOUWEN, IEM ;

VANTVEERKORTHOF, ET ;

VANDERHARTEN, JJ ;

SOBOTKAPLOJHAR, MA .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1983, 62 (1-3) :327-355

[3] A novel X-linked gene, G4.5. is responsible for Barth syndrome [J].

Bione, S ;

DAdamo, P ;

Maestrini, E ;

Gedeon, AK ;

Bolhuis, PA ;

Toniolo, D .

NATURE GENETICS, 1996, 12 (04) :385-389

[4]

BOLHUIS PA, 1991, AM J HUM GENET, V48, P481

[5] Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction [J].

Chen, R ;

Tsuji, T ;

Ichida, F ;

Bowles, KR ;

Yu, XY ;

Watanabe, S ;

Hirono, K ;

Tsubata, S ;

Hamamichi, Y ;

Ohta, J ;

Imai, Y ;

Bowles, NE ;

Miyawaki, T ;

Towbin, JA .

MOLECULAR GENETICS AND METABOLISM, 2002, 77 (04) :319-325

[6] Barth syndrome [J].

Clarke, Sarah L. N. ;

Bowron, Ann ;

Gonzalez, Iris L. ;

Groves, Sarah J. ;

Newbury-Ecob, Ruth ;

Clayton, Nicol ;

Martin, Robin P. ;

Tsai-Goodman, Beverly ;

Garratt, Vanessa ;

Ashworth, Michael ;

Bowen, Valerie M. ;

McCurdy, Katherine R. ;

Damin, Michaela K. ;

Spencer, Carolyn T. ;

Toth, Matthew J. ;

Kelly, Richard I. ;

Steward, Colin G. .

ORPHANET JOURNAL OF RARE DISEASES, 2013, 8

[7] Barth syndrome in a female patient [J].

Cosson, Laure ;

Toutain, Annick ;

Simard, Gilles ;

Kulik, Willem ;

Matyas, Gabor ;

Guichet, Agnes ;

Blasco, Helene ;

Maakaroun-Vermesse, Zoha ;

Vaillant, Marie-Catherine ;

Le Caignec, Cedric ;

Chantepie, Alain ;

Labarthe, Francois .

MOLECULAR GENETICS AND METABOLISM, 2012, 106 (01) :115-120

[8] Human Splicing Finder: an online bioinformatics tool to predict splicing signals [J].

Desmet, Francois-Olivier ;

Hamroun, Dalil ;

Lalande, Marine ;

Collod-Beroud, Gwenaelle ;

Claustres, Mireille ;

Beroud, Christophe .

NUCLEIC ACIDS RESEARCH, 2009, 37 (09)

[9] New clinical and molecular insights on Barth syndrome [J].

Ferri, Lorenzo ;

Donati, Maria Alice ;

Funghini, Silvia ;

Malvagia, Sabrina ;

Catarzi, Serena ;

Lugli, Licia ;

Ragni, Luca ;

Bertini, Enrico ;

Vaz, Frederic M. ;

Cooper, David N. ;

Guerrini, Renzo ;

Morrone, Amelia .

ORPHANET JOURNAL OF RARE DISEASES, 2013, 8

[10]

Gonzalez IL, 2012, HUMAN TAFAZZIN TAZ G

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