A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome

被引：1

作者：

Altiner, Sule ^{[1
]}

Karabulut, Halil G. ^{[1
]}

Yararbas, Kanay ^{[3
]}

Tukun, Ajlan ^{[1
,3
]}

Collet, Corinne ^{[4
]}

Kocaay, Pinar ^{[2
]}

Berberoglu, Merih ^{[2
]}

Ruhi, Hatice Ilgin ^{[1
]}

机构：

[1] Ankara Univ, Sch Med, Dept Med Genet, TR-06100 Ankara, Turkey

[2] Ankara Univ, Sch Med, Dept Pediat Endocrinol, Ankara, Turkey

[3] Duzen Labs Grp, Div Med Genet, Ankara, Turkey

[4] Hop Lariboisiere, AP HP, Lab Biochim & Biol Mol, Paris, France

来源：

CLINICAL DYSMORPHOLOGY | 2017年 / 26卷 / 03期

关键词：

Craniosynostosis; Saethre-Chotzen syndrome; TWIST1; FoSTeS; Indel mutation; PHENOTYPE;

D O I：

10.1097/MCD.0000000000000162

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：175 / 178

页数：4

共 19 条

[1] The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome [J].

Bourgeois, P ;

Bolcato-Bellemin, AL ;

Danse, JM ;

Bloch-Zupan, A ;

Yoshiba, K ;

Stoetzel, C ;

Perrin-Schmitt, F .

HUMAN MOLECULAR GENETICS, 1998, 7 (06) :945-957

[2] Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions:: an improved strategy for TWIST mutation screening [J].

Cai, JL ;

Goodman, BK ;

Patel, AS ;

Mulliken, JB ;

Van Maldergem, L ;

Hoganson, GE ;

Paznekas, WA ;

Ben-Neriah, Z ;

Sheffer, R ;

Cunningham, ML ;

Daentl, DL ;

Jabs, EW .

HUMAN GENETICS, 2003, 114 (01) :68-76

[3] Genetic analysis of patients with the Saethre-Chotzen phenotype [J].

Chun, K ;

Teebi, AS ;

Jung, JH ;

Kennedy, S ;

Laframboise, R ;

Meschino, WS ;

Nakabayashi, K ;

Scherer, SW ;

Ray, PN ;

Teshima, I .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 110 (02) :136-143

[4] Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile [J].

de Jong, T. ;

Bannink, N. ;

Bredero-Boelhouwer, H. H. ;

van Veelen, M. L. C. ;

Bartels, M. C. ;

Hoeve, L. J. ;

Hoogeboom, A. J. M. ;

Wolvius, E. B. ;

Lequin, M. H. ;

van der Meulen, J. J. N. M. ;

van Adrichem, L. N. A. ;

Vaandrager, J. M. ;

Ongkosuwito, E. M. ;

Joosten, K. F. M. ;

Mathijssen, I. M. J. .

JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY, 2010, 63 (10) :1635-1641

[5] The Natural History of Patients Treated for TWIST1-Confirmed Saethre-Chotzen Syndrome [J].

Foo, Roy ;

Guo, Yifan ;

McDonald-McGinn, Donna M. ;

Zackai, Elaine H. ;

Whitaker, Linton A. ;

Bartlett, Scott P. .

PLASTIC AND RECONSTRUCTIVE SURGERY, 2009, 124 (06) :2085-2095

[6]

Gripp KW, 2000, HUM MUTAT, V15, P150, DOI 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO

[7]

2-D

[8] Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome [J].

Howard, TD ;

Paznekas, WA ;

Green, ED ;

Chiang, LC ;

Ma, N ;

DeLuna, RIO ;

Delgado, CG ;

GonzalezRamos, M ;

Kline, AD ;

Jabs, EW .

NATURE GENETICS, 1997, 15 (01) :36-41

[9] A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1 [J].

Johnson, D ;

Horsley, SW ;

Moloney, DM ;

Oldridge, M ;

Twigg, SRF ;

Walsh, S ;

Barrow, M ;

Njolstad, PR ;

Kunz, J ;

Ashworth, GJ ;

Wall, SA ;

Kearney, L ;

Wilkie, AOM .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (05) :1282-1293

[10] Saethre-Chotzen syndrome caused by TWIST 1 gene mutations:: functional differentiation from Muenke coronal synostosis syndrome [J].

Kress, W ;

Schropp, C ;

Lieb, G ;

Petersen, B ;

Büsse-Ratzka, M ;

Kunz, J ;

Reinhart, E ;

Schäfer, WF ;

Sold, J ;

Hoppe, F ;

Pahnke, J ;

Trusen, A ;

Sörensen, N ;

Krauss, J ;

Collmann, H .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (01) :39-48

← 1 2 →