IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

被引：109

作者：

Aldahmesh, Mohammed A. ^{[1
]}

Li, Yuanyuan ^{[3
]}

Alhashem, Amal ^{[5
,9
]}

Anazi, Shams ^{[1
]}

Alkuraya, Hisham ^{[6
]}

Hashem, Mais ^{[1
]}

Awaji, Ali A. ^{[7
]}

Sogaty, Sameera ^{[11
]}

Alkharashi, Abdullah ^{[8
]}

Alzahrani, Saeed ^{[12
]}

Al Hazzaa, Selwa A. ^{[2
,10
]}

Xiong, Yong ^{[4
]}

Kong, Shanshan ^{[3
]}

Sun, Zhaoxia ^{[2
,3
]}

Alkuraya, Fowzan S. ^{[1
,9
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Ophthalmol, Riyadh 11211, Saudi Arabia

[3] Yale Univ, Dept Genet, New Haven, CT USA

[4] Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT USA

[5] Prince Sultan Mil Med City, Deparment Pediat, Riyadh, Saudi Arabia

[6] Imam Muhammad Ibn Saud Islamic Univ, Dept Ophthalmol, Coll Med, Riyadh, Saudi Arabia

[7] King Fahad Cent Hosp, Dept Pediat, Jazan, Saudi Arabia

[8] King Saud Univ, Coll Med, Deparment Ophthalmol, Riyadh 11461, Saudi Arabia

[9] Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia

[10] Alfaisal Univ, Dept Ophthalmol, Coll Med, Riyadh, Saudi Arabia

[11] King Fahad Gen Hosp, Dept Med Genet, Jeddah, Saudi Arabia

[12] Prince Sultan Mil Med City, Dept Pediat Nephrol, Riyadh, Saudi Arabia

来源：

HUMAN MOLECULAR GENETICS | 2014年 / 23卷 / 12期

关键词：

SYNDROME GENES; MUTATIONS; PROTEINS; BBSOME; COMPLEX; IDENTIFICATION; FLAGELLAR; OBESITY; TRAFFICKING; DYSTROPHY;

D O I：

10.1093/hmg/ddu044

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：

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified genes cannot account for all the BBS cases. The genetic heterogeneity of this disease poses significant challenge to the identification of additional BBS genes. In this study, we coupled human genetics with functional validation in zebrafish and identified IFT27 as a novel BBS gene (BBS19). This is the first time an intraflagellar transport (IFT) gene is implicated in the pathogenesis of BBS, highlighting the genetic complexity of this disease.

引用

页码：3307 / 3315

页数：9

共 60 条

[41] Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene [J].

Nishimura, DY ;

Swiderski, RE ;

Searby, CC ;

Berg, EM ;

Ferguson, AL ;

Hennekam, R ;

Merin, S ;

Weleber, RG ;

Biesecker, LG ;

Stone, EM ;

Sheffield, VC .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (06) :1021-1033

[42] Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2) [J].

Nishimura, DY ;

Searby, CC ;

Carmi, R ;

Elbedour, K ;

Van Maldergem, L ;

Fulton, AB ;

Lam, BL ;

Powell, BR ;

Swiderski, RE ;

Bugge, KE ;

Haider, NB ;

Kwitek-Black, AE ;

Ying, LH ;

Duhl, DM ;

Gorman, SW ;

Heon, E ;

Iannaccone, A ;

Bonneau, D ;

Biesecker, LG ;

Jacobson, SG ;

Stone, EM ;

Sheffield, VC .

HUMAN MOLECULAR GENETICS, 2001, 10 (08) :865-874

[43] Functional coordination of intraflagellar transport motors [J].

Ou, GS ;

Blacque, OE ;

Snow, JJ ;

Leroux, MR ;

Scholey, JM .

NATURE, 2005, 436 (7050) :583-587

[44] Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations [J].

Perrault, Isabelle ;

Saunier, Sophie ;

Hanein, Sylvain ;

Filhol, Emilie ;

Bizet, Albane A. ;

Collins, Felicity ;

Salih, Mustafa A. M. ;

Gerber, Sylvie ;

Delphin, Nathalie ;

Bigot, Karine ;

Orssaud, Christophe ;

Silva, Eduardo ;

Baudouin, Veronique ;

Oud, Machteld M. ;

Shannon, Nora ;

Le Merrer, Martine ;

Roche, Olivier ;

Pietrement, Christine ;

Goumid, Jamal ;

Baumann, Clarisse ;

Bole-Feysot, Christine ;

Nitschke, Patrick ;

Zahrate, Mohammed ;

Beales, Philip ;

Arts, Heleen H. ;

Munnich, Arnold ;

Kaplan, Josseline ;

Antignac, Corinne ;

Cormier-Daire, Valerie ;

Rozet, Jean-Michel .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (05) :864-870

[45] Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes [J].

Redin, Claire ;

Le Gras, Stephanie ;

Mhamdi, Oussema ;

Geoffroy, Veronique ;

Stoetzel, Corinne ;

Vincent, Marie-Claire ;

Chiurazzi, Pietro ;

Lacombe, Didier ;

Ouertani, Ines ;

Petit, Florence ;

Till, Marianne ;

Verloes, Alain ;

Jost, Bernard ;

Chaabouni, Habiba Bouhamed ;

Dollfus, Helene ;

Mandel, Jean-Louis ;

Muller, Jean .

JOURNAL OF MEDICAL GENETICS, 2012, 49 (08) :502-512

[46] Intraflagellar transport [J].

Rosenbaum, JL ;

Witman, GB .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2002, 3 (11) :813-825

[47] COMPARATIVE PROTEIN MODELING BY SATISFACTION OF SPATIAL RESTRAINTS [J].

SALI, A ;

BLUNDELL, TL .

JOURNAL OF MOLECULAR BIOLOGY, 1993, 234 (03) :779-815

[48] Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly [J].

Schaefer, E. ;

Zaloszyc, A. ;

Lauer, J. ;

Durand, M. ;

Stutzmann, F. ;

Perdomo-Trujillo, Y. ;

Redin, C. ;

Greene, V. Bennouna ;

Toutain, A. ;

Perrin, L. ;

Gerard, M. ;

Caillard, S. ;

Bei, X. ;

Lewis, R. A. ;

Christmann, D. ;

Letsch, J. ;

Kribs, M. ;

Mutter, C. ;

Muller, J. ;

Stoetzel, C. ;

Fischbach, M. ;

Marion, V. ;

Katsanis, N. ;

Dollfus, H. .

MOLECULAR SYNDROMOLOGY, 2010, 1 (06) :273-281

[49] Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18) [J].

Scheidecker, Sophie ;

Etard, Christelle ;

Pierce, Nathan W. ;

Geoffroy, Veronique ;

Schaefer, Elise ;

Muller, Jean ;

Chennen, Kirsley ;

Flori, Elisabeth ;

Pelletier, Valerie ;

Poch, Olivier ;

Marion, Vincent ;

Stoetzel, Corinne ;

Straehle, Uwe ;

Nachury, Maxence V. ;

Dollfus, Helene .

JOURNAL OF MEDICAL GENETICS, 2014, 51 (02) :132-136

[50] Mutations in MKKS cause Bardet-Biedl syndrome [J].

Slavotinek, AM ;

Stone, EM ;

Mykytyn, K ;

Heckenlively, JR ;

Green, JS ;

Heon, E ;

Musarella, MA ;

Parfrey, PS ;

Sheffield, VC ;

Biesecker, LG .

NATURE GENETICS, 2000, 26 (01) :15-16

← 1 2 3 4 5 6 →