A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

被引：54

作者：

Pasquier, L

Dubourg, C

Blayau, M

Lazaro, L

Le Marec, B

David, V

Odent, S

机构：

[1] CHU Pontchaillou, Serv Genet Med, Rennes, France

[2] CHU Pontchaillou, Genet Mol Lab, Rennes, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2000年 / 8卷 / 10期

关键词：

cyclopia; holoprosencephaly; SIX3; SIX family;

D O I：

10.1038/sj.ejhg.5200540

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Holoprosencephaly (HPE) is a severe brain malformation which results from incomplete cleavage of the forebrain during early embryogenesis. The aetiology of HPE is very heterogeneous. Among the genetic factors, SIX3, which is considered to be the functional orthologue of Drosophila genes sine oculis (so) and optix, has been found to be mutated in the homeodomain, in some patients with HPE (HPE2 on chromosome 2p21). We report a new HPE family, presenting a wide spectrum of clinical features, ranging from cyclopia to hypotelorism, in which a mutation was found for the first time in the SIX domain of SIX3: a GG insertion creates a frameshift leading to a nonsense mutation downstream in the homeodomain region.

引用

页码：797 / 800

页数：4

共 15 条

[1] Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies [J].

Gallardo, ME ;

Lopez-Rios, J ;

Fernaud-Espinosa, I ;

Granadino, B ;

Sanz, R ;

Ramos, C ;

Ayuso, C ;

Seller, MJ ;

Brunner, HG ;

Bovolenta, P ;

de Córdoba, SR .

GENOMICS, 1999, 61 (01) :82-91

[2] Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene [J].

Granadino, B ;

Gallardo, ME ;

López-Ríos, J ;

Sanz, R ;

Ramos, C ;

Ayuso, C ;

Bovolenta, P ;

de Córdoba, SR .

GENOMICS, 1999, 55 (01) :100-105

[3]

Leppert G S, 1999, Ophthalmic Genet, V20, P7, DOI 10.1076/opge.20.1.7.2298

[4] The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly:: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly [J].

Nanni, L ;

Ming, JE ;

Bocian, M ;

Steinhaus, K ;

Bianchi, DW ;

de Die-Smulders, C ;

Giannotti, A ;

Imaizumi, K ;

Jones, KL ;

Del Campo, M ;

Martin, RA ;

Meinecke, P ;

Pierpont, MEM ;

Robin, NH ;

Young, ID ;

Roessler, E ;

Muenke, M .

HUMAN MOLECULAR GENETICS, 1999, 8 (13) :2479-2488

[5]

Nanni L, 2000, AM J MED GENET, V90, P315, DOI 10.1002/(SICI)1096-8628(20000214)90:4<315::AID-AJMG10>3.0.CO

[6]

2-Y

[7]

Odent S, 1998, AM J MED GENET, V77, P139, DOI 10.1002/(SICI)1096-8628(19980501)77:2<139::AID-AJMG6>3.3.CO

[8]

2-R

[9] Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly [J].

Odent, S ;

Attié-Bitach, T ;

Blayau, M ;

Mathieu, M ;

Augé, J ;

Delezoïde, AL ;

Le Gall, JY ;

Le Marec, B ;

Munnich, A ;

David, V ;

Vekemans, M .

HUMAN MOLECULAR GENETICS, 1999, 8 (09) :1683-1689

[10]

ODENT S, 2000, EUR HUM GEN C 2000 A

← 1 2 →