Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly

被引：14

作者：

Donnelly, Meghan ^{[1
]}

Todd, Emily ^{[1
]}

Wheeler, Marsha ^{[1
]}

Winn, Virginia D. ^{[1
]}

Kamnasaran, Deepak ^{[2
,3
]}

机构：

[1] Univ Colorado, Sch Med, Div Maternal Fetal Med, Aurora, CO 80045 USA

[2] Ctr Rech CHUL, Pediat Res Unit, Quebec City, PQ, Canada

[3] Univ Laval, Dept Pediat, Quebec City, PQ G1K 7P4, Canada

来源：

PRENATAL DIAGNOSIS | 2012年 / 32卷 / 09期

基金：

加拿大自然科学与工程研究理事会;

关键词：

GENE;

D O I：

10.1002/pd.3910

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：903 / 905

页数：3

共 10 条

[1] PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents [J].

Celik, T. ;

Simsek, P. O. ;

Sozen, T. ;

Ozyuncu, O. ;

Utine, G. E. ;

Talim, B. ;

Yigil, S. ;

Boduroglu, K. ;

Kamnasaran, D. .

CLINICAL GENETICS, 2012, 81 (03) :294-297

[2] Agnathia-otocephaly with holoprosencephaly on prenatal three-dimensional ultrasound [J].

Chaoui, R. ;

Heling, K. S. ;

Thiel, G. ;

Karl, K. .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2011, 37 (06) :745-748

[3] Current perspectives on the etiology of agnathia-otocephaly [J].

Gekas, Jean ;

Li, Bin ;

Kamnasaran, Deepak .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2010, 53 (06) :358-366

[4] PRENATAL DIAGNOSIS AND MOLECULAR GENETIC STUDIES ON A NEW CASE OF AGNATHIA-OTOCEPHALY [J].

Kamnasaran, Deepak ;

Morin, Francoise ;

Gekas, Jean .

FETAL AND PEDIATRIC PATHOLOGY, 2010, 29 (04) :207-211

[5] Holoprosencephaly and Agnathia Spectrum: Presentation of Two New Patients and Review of the Literature [J].

Kauvar, Emily F. ;

Solomon, Benjamin D. ;

Curry, Cynthia J. R. ;

Van Essen, Anthonie J. ;

Janssen, Nicole ;

Dutra, Amalia ;

Roessler, Erich ;

Muenke, Maximilian .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2010, 154C (01) :158-169

[6]

Lu MF, 1999, DEVELOPMENT, V126, P495

[7] THE PAIRED-LIKE HOMEO BOX GENE MHOX IS REQUIRED FOR EARLY EVENTS OF SKELETOGENESIS IN MULTIPLE LINEAGES [J].

MARTIN, JF ;

BRADLEY, A ;

OLSON, EN .

GENES & DEVELOPMENT, 1995, 9 (10) :1237-1249

[8] The identification of Prx1 transcription regulatory domains provides a mechanism for unequal compensation by the Prx1 and Prx2 loci [J].

Norris, RA ;

Kern, MJ .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (29) :26829-26837

[9] PRRX1 is mutated in a fetus with agnathia-otocephaly [J].

Sergi, C. ;

Kamnasaran, D. .

CLINICAL GENETICS, 2011, 79 (03) :293-295

[10] Prenatal three-dimensional ultrasonography in a case of agnathia-otocephaly [J].

Tantbirojn, Patou ;

Taweevisit, Mana ;

Sritippayawan, Suchila ;

Tanawattanacharoen, Somchai ;

Uerpairojkit, Boonchai .

JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH, 2008, 34 (04) :663-665

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