Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome

被引：62

作者：

Abouzeid, Hana ^{[1
,2
]}

Boisset, Gaelle ^{[1
]}

Favez, Tatiana ^{[1
]}

Youssef, Mohamed ^{[3
]}

Marzouk, Iman ^{[3
]}

Shakankiry, Nihal ^{[4
]}

Bayoumi, Nader ^{[4
]}

Descombes, Patrick ^{[5
]}

Agosti, Celine ^{[1
]}

Munier, Francis L. ^{[1
,2
]}

Schorderet, Daniel E. ^{[1
,2
,6
]}

机构：

[1] IRO, CH-1950 Sion, Switzerland

[2] Univ Lausanne, Jules Gonin Eye Hosp, CH-1003 Lausanne, Switzerland

[3] Univ Alexandria, Genet Unit, Dept Paediat, Alexandria 21526, Egypt

[4] Univ Alexandria, Dept Ophthalmol, Alexandria 21526, Egypt

[5] Univ Geneva, NCCR Frontiers Genet, CH-1211 Geneva, Switzerland

[6] Ecole Polytech Fed Lausanne, Fed Sch Technol Lausanne, CH-1015 Lausanne, Switzerland

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2011年 / 88卷 / 01期

关键词：

OPHTHALMO-ACROMELIC SYNDROME; RECESSIVE ANOPHTHALMIA; HOMEOBOX GENE; MICROPHTHALMIA; EYE; ABNORMALITIES; ANOMALIES; FIBULIN-1; SOX2;

D O I：

10.1016/j.ajhg.2010.12.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.

引用

页码：92 / 98

页数：7

共 44 条

[1] al Gazali L I, 1994, Clin Dysmorphol, V3, P258
[2] Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
Asai-Coakwell, Mika
French, Curtis R.
Ye, Ming
Garcha, Kamal
Bigot, Karin
Perera, Anoja G.
Staehling-Hampton, Karen
Mema, Silvina C.
Chanda, Bhaskar
Mushegian, Arcady
Bamforth, Steven
Doschak, Michael R.
Li, Guang
Dobbs, Matthew B.
Giampietro, Philip F.
Brooks, Brian P.
Vijayalakshmi, Perumalsamy
Sauve, Yves
Abitbol, Marc
Sundaresan, Periasamy
van Heyningen, Veronica
Pourquie, Olivier
Underhill, T. Michael
Waskiewicz, Andrew J.
Lehmann, Ordan J.
[J]. HUMAN MOLECULAR GENETICS, 2009, 18 (06) : 1110 - 1121
[3] Mutations in BMP4 cause eye, brain, and digit developmental anomalies:: Overlap between the BMP4 and hedgehog signaling pathways
Bakrania, Preeti
Efthymiou, Maria
Klein, Johannes C.
Salt, Alison
Bunyan, David J.
Wyatt, Alex
Ponting, Chris P.
Martin, Angela
Williams, Steven
Lindley, Victoria
Gilmore, Joanne
Restori, Marie
Robson, Anthony G.
Neveu, Magella M.
Holder, Graham E.
Collin, J. Richard O.
Robinson, David O.
Farndon, Peter
Johansen-Berg, Heidi
Gerrelli, Dianne
Ragge, Nicola K.
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (02) : 304 - 319
[4] DELETION 14Q (Q22Q23) ASSOCIATED WITH ANOPHTHALMIA, ABSENT PITUITARY, AND OTHER ABNORMALITIES
BENNETT, CP
BETTS, DR
SELLER, MJ
[J]. JOURNAL OF MEDICAL GENETICS, 1991, 28 (04) : 280 - 281
[5] A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development
Chao, Ryan
Nevin, Linda
Agarwal, Pooja
Riemer, Jan
Bai, Xiaoyang
Delaney, Allen
Akana, Matthew
JimenezLopez, Nelson
Bardakjian, Tanya
Schneider, Adele
Chassaing, Nicolas
Schorderet, Daniel F.
FitzPatrick, David
Kwok, Pui-yan
Ellgaard, Lars
Gould, Douglas B.
Zhang, Yan
Malicki, Jarema
Baier, Herwig
Slavotinek, Anne
[J]. PLOS ONE, 2010, 5 (05):
[6] Secretome Analysis of Human BMSCs and Identification of SMOC1 as an Important ECM Protein in Osteoblast Differentiation
Choi, Young-Ae
Lim, Jiwon
Kim, Kyung Min
Acharya, Bodhraj
Cho, Je-Yoel
Bae, Yong-Chul
Shin, Hong-In
Kim, Shin-Yoon
Park, Eui Kyun
[J]. JOURNAL OF PROTEOME RESEARCH, 2010, 9 (06) : 2946 - 2956
[7] Mutations in SOX2 cause anophthalmia
Fantes, J
Ragge, NK
Lynch, SA
McGill, NI
Collin, JRO
Howard-Peebles, PN
Hayward, C
Vivian, AJ
Williamson, K
van Heyningen, V
FitzPatrick, DR
[J]. NATURE GENETICS, 2003, 33 (04) : 461 - 463
[8] Fuhrmann S, 2010, CURR TOP DEV BIOL, V93, P61, DOI [10.1016/B978-0-12-385044-7.00003-5, 10.1016/S0070-2153(10)93003-2]
[9] Fuhrmann Sabine, 2008, Organogenesis, V4, P60
[10] Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia
Gallardo, ME
de Córdoba, SR
Schneider, AS
Dwyer, MA
Ayuso, C
Bovolenta, P
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (01) : 92 - 94

← 1 2 3 4 5 →