Two Novel STRA6 Mutations in a Patient With Anophthalmia and Diaphragmatic Eventration

被引：23

作者：

West, B.

Bove, K. E. ^{[2
,3
]}

Slavotinek, A. M. ^{[1
]}

机构：

[1] Univ Calif San Francisco, Div Genet, Dept Pediat, San Francisco, CA 94143 USA

[2] Univ Cincinnati, Dept Pathol HT4, Cincinnati, OH USA

[3] Childrens Hosp, Med Ctr, Cincinnati, OH 45229 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 03期

关键词：

MATTHEW-WOOD-SYNDROME; AUTOSOMAL RECESSIVE INHERITANCE; CARDIAC DEFECT; HYPOPLASIA; RECEPTOR; HERNIA;

D O I：

10.1002/ajmg.a.32682

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：539 / 542

页数：4

共 10 条

[1]

Berkenstadt M, 1999, AM J MED GENET, V86, P6, DOI 10.1002/(SICI)1096-8628(19990903)86:1<6::AID-AJMG2>3.3.CO

[2]

2-U

[3]

Ceylaner S, 2006, GENET COUNSEL, V17, P231

[4] The PDAC syndrome (Pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome):: Report of eight cases including a living child and further evidence for autosomal recessive inheritance [J].

Chitayat, David ;

Sroka, Hana ;

Keating, Sarah ;

Colby, Randall S. ;

Ryan, Greg ;

Toi, Ants ;

Blaser, Susan ;

Viero, Sandra ;

Devisme, Louise ;

Boute-Benejean, Odile ;

Manouvrier-Hanu, Sylvie ;

Mortier, Geert ;

Loeys, Bart ;

Rauch, Anita ;

Bitoun, Pierre .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (12) :1268-1281

[5] Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6 [J].

Golzio, Christelle ;

Martinovic-Bouriel, Jelena ;

Thomas, Sophie ;

Mougou-Zrelli, Soumaya ;

Grattagliano-Bessieres, Bettina ;

Bonniere, Maryse ;

Delahaye, Sophie ;

Munnich, Arnold ;

Encha-Razavi, Ferechte ;

Lyonnet, Stanislas ;

Vekemans, Michel ;

Attie-Bitach, Tania ;

Etchevers, Heather C. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (06) :1179-1187

[6] A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A [J].

Kawaguchi, Riki ;

Yu, Jiamei ;

Honda, Jane ;

Hu, Jane ;

Whitelegge, Julian ;

Ping, Peipei ;

Wiita, Patrick ;

Bok, Dean ;

Sun, Hui .

SCIENCE, 2007, 315 (5813) :820-825

[7] Simulation and experiment on the thermal performance of U-vertical ground coupled heat exchanger [J].

Department of Thermal Engineering, School of Mechanical Engineering, Tianjin University, Tianjin, 300072, China .

Appl Therm Eng, 2006, 14-15 (1564-1571)

[8] Matthew-Wood syndrome:: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2 [J].

Martinovic-Bouriel, Jelena ;

Bernabe-Dupont, Celine ;

Golzio, Christelle ;

Grattagliano-Bessieres, Bettina ;

Malan, Valerie ;

Bonniere, Maryse ;

Esculpavit, Chantal ;

Fallet-Bianco, Catherine ;

Mirlesse, Veronique ;

Le Bidois, Jerome ;

Aubry, Marie-Cecile ;

Vekemans, Michel ;

Morichon, Nicole ;

Etchevers, Heather ;

Attie-Bitach, Tania ;

Encha-Razavi, Ferechte ;

Benachi, Alexandra .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (03) :219-228

[9] Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation [J].

Pasutto, Francesca ;

Sticht, Heinrich ;

Hammersen, Gerhard ;

Gillessen-Kaesbach, Gabriele ;

FitzPatrick, David R. ;

Nuernberg, Gudrun ;

Brasch, Frank ;

Schirmer-Zimmermann, Heidemarie ;

Tolmie, John L. ;

Chitayat, David ;

Houge, Gunnar ;

Fernandez-Martinez, Lorena ;

Keating, Sarah ;

Mortier, Geert ;

Hennekam, Raoul C. M. ;

von der Wense, Axel ;

Slavotinek, Anne ;

Meinecke, Peter ;

Bitoun, Pierre ;

Becker, Christian ;

Nuernberg, Peter ;

Reis, Andre ;

Rauch, Anita .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (03) :550-560

[10] Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom [J].

Steiner, RD ;

Dignan, PS ;

Hopkin, RJ ;

Kozielski, R ;

Bove, KE .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 108 (01) :45-50

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