Holoprosencephaly: report of four cases and genotype-phenotype correlations

被引：8

作者：

Lami, Francesca ^{[1
]}

Carli, Diana ^{[2
]}

Ferrari, Paola ^{[1
]}

Marini, Monica ^{[3
,4
]}

Alesi, Viola ^{[5
]}

Iughetti, Lorenzo ^{[1
]}

Percesepe, Antonio ^{[2
]}

机构：

[1] Univ Modena, Dept Mother & Child, Pediat Unit, I-41124 Modena, Italy

[2] Univ Modena, Dept Mother & Child, Med Genet Unit, I-41124 Modena, Italy

[3] Univ Genoa, Dept Pediat, Mol Genet Lab, I-16147 Genoa, Italy

[4] Univ Genoa, CEBR, I-16147 Genoa, Italy

[5] S Pietro Fatebenefratelli Hosp, Med Genet Unit, I-00189 Rome, Italy

来源：

JOURNAL OF GENETICS | 2013年 / 92卷 / 01期

关键词：

holoprosencephaly; Currarino syndrome; 7q36; deletion; SHH gene mutation; SONIC-HEDGEHOG GENE; CURRARINO-SYNDROME; HIRSCHSPRUNGS-DISEASE; SPECTRUM; MUTATION; EXPRESSION; RANGE; TRIAD; SHH;

D O I：

10.1007/s12041-013-0215-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：97 / 101

页数：5

共 20 条

[1] Currarino triad associated with Hirschsprung's disease [J].

Baltogiannis, N ;

Mavridis, G ;

Soutis, M ;

Keramidas, D .

JOURNAL OF PEDIATRIC SURGERY, 2003, 38 (07) :1086-1089

[2] Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum:: Mutation review and genotype-phenotype correlations [J].

Dubourg, C ;

Lazaro, L ;

Pasquier, L ;

Bendavid, C ;

Blayau, M ;

Le Duff, F ;

Durou, MR ;

Odent, S ;

David, V .

HUMAN MUTATION, 2004, 24 (01) :43-51

[3] Holoprosencephaly [J].

Dubourg, Christele ;

Bendavid, Claude ;

Pasquier, Laurent ;

Henry, Catherine ;

Odent, Sylvie ;

David, Veronique .

ORPHANET JOURNAL OF RARE DISEASES, 2007, 2 (1)

[4]

Frints SGM, 1998, AM J MED GENET, V75, P153, DOI 10.1002/(SICI)1096-8628(19980113)75:2<153::AID-AJMG6>3.0.CO

[5]

2-U

[6] Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene [J].

Hagan, DM ;

Ross, AJ ;

Strachan, T ;

Lynch, SA ;

Ruiz-Perez, V ;

Wang, YM ;

Scambler, P ;

Custard, E ;

Reardon, W ;

Hassan, S ;

Muenke, M ;

Nixon, P ;

Papapetrou, C ;

Winter, RM ;

Edwards, Y ;

Morrison, K ;

Barrow, M ;

Cordier-Alex, MP ;

Correia, P ;

Galvin-Parton, PA ;

Gaskill, S ;

Gaskin, KJ ;

Garcia-Minaur, S ;

Gereige, R ;

Hayward, R ;

Homfray, T ;

McKeown, C ;

Murday, V ;

Plauchu, H ;

Shannon, N ;

Spitz, L ;

Lindsay, S .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (05) :1504-1515

[7] Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3 [J].

Horn, D ;

Tönnies, H ;

Neitzel, H ;

Wahl, D ;

Hinkel, GK ;

von Moers, A ;

Bartsch, O .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 128A (01) :85-92

[8] Autosomal dominant sacral agenesis: Currarino syndrome [J].

Lynch, SA ;

Wang, YM ;

Strachan, T ;

Burn, J ;

Lindsay, S .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (08) :561-566

[9]

MACDONALD R, 1995, DEVELOPMENT, V121, P3267

[10] New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases [J].

Mercier, Sandra ;

Dubourg, Christele ;

Garcelon, Nicolas ;

Campillo-Gimenez, Boris ;

Gicquel, Isabelle ;

Belleguic, Marion ;

Ratie, Leslie ;

Pasquier, Laurent ;

Loget, Philippe ;

Bendavid, Claude ;

Jaillard, Sylvie ;

Rochard, Lucie ;

Quelin, Chloe ;

Dupe, Valerie ;

David, Veronique ;

Odent, Sylvie .

JOURNAL OF MEDICAL GENETICS, 2011, 48 (11) :752-760

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