Loss of Dermatan-4-sulfotransferase 1 (D4ST1/CHST14) Function Represents the First Dermatan Sulfate Biosynthesis Defect, "Dermatan Sulfate-Deficient Adducted Thumb-Clubfoot Syndrome''

被引：14

作者：

Janecke, Andreas R. ^{[1
,2
]}

Baenziger, Jacques U. ^{[3
,4
]}

Mueller, Thomas ^{[1
]}

Dundar, Munis ^{[5
]}

机构：

[1] Innsbruck Med Univ, Dept Pediat 2, A-6020 Innsbruck, Austria

[2] Innsbruck Med Univ, Div Human Genet, A-6020 Innsbruck, Austria

[3] Washington Univ, Sch Med, Dept Pathol, St Louis, MO 63110 USA

[4] Washington Univ, Sch Med, Dept Immunol, St Louis, MO 63110 USA

[5] Erciyes Univ, Dept Med Genet, Kayseri, Turkey

来源：

HUMAN MUTATION | 2011年 / 32卷 / 04期

关键词：

EHLERS-DANLOS-SYNDROME; FOOT SYNDROME; MUTATIONS; CHST14;

D O I：

10.1002/humu.21440

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：484 / 485

页数：2

共 9 条

[1] Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome [J].

Duendar, Munis ;

Mueller, Thomas ;

Zhang, Qi ;

Pan, Jing ;

Steinmann, Beat ;

Vodopiutz, Julia ;

Gruber, Robert ;

Sonoda, Tohru ;

Krabichler, Birgit ;

Utermann, Gerd ;

Baenziger, Jacques U. ;

Zhang, Lijuan ;

Janecke, Andreas R. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (06) :873-882

[2] A case with adducted thumb and club foot syndrome [J].

Dundar, M ;

Kurtoglu, S ;

Elmas, B ;

Demiryilmaz, F ;

Candemir, Z ;

Ozkul, Y ;

Durak, AC .

CLINICAL DYSMORPHOLOGY, 2001, 10 (04) :291-293

[3]

Dundar M, 1997, CLIN GENET, V51, P61

[4] Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase [J].

Evers, MR ;

Xia, GQ ;

Kang, HG ;

Schachner, M ;

Baenziger, JU .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (39) :36344-36353

[5] Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family [J].

Janecke, AR ;

Unsinn, K ;

Kreczy, A ;

Baldissera, I ;

Gassner, I ;

Neu, N ;

Utermann, G ;

Müller, T .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (04) :265-269

[6] A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Multiple Congenital Contractures, Progressive Joint and Skin Laxity, and Multisystem Fragility-Related Manifestations [J].

Kosho, Tomoki ;

Miyake, Noriko ;

Hatamochi, Atsushi ;

Takahashi, Jun ;

Kato, Hiroyuki ;

Miyahara, Teruyoshi ;

Igawa, Yasuhiko ;

Yasui, Hiroshi ;

Ishida, Tadao ;

Ono, Kurahito ;

Kosuda, Takashi ;

Inoue, Akihiko ;

Kohyama, Mohei ;

Hattori, Tadashi ;

Ohashi, Hirofumi ;

Nishimura, Gen ;

Kawamura, Rie ;

Wakui, Keiko ;

Fukushima, Yoshimitsu ;

Matsumoto, Naomichi .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (06) :1333-1346

[7] Musculocontractural Ehlers-Danlos Syndrome (Former EDS Type VIB) and Adducted Thumb Clubfoot Syndrome (ATCS) Represent a Single Clinical Entity Caused by Mutations in the Dermatan-4-sulfotransferase 1 Encoding CHST14 Gene [J].

Malfait, Fransiska ;

Syx, Delfien ;

Vlummens, Philip ;

Symoens, Sofie ;

Nampoothiri, Sheela ;

Hermanns-Le, Trinh ;

Van Laer, Lut ;

De Paepe, Anne .

HUMAN MUTATION, 2010, 31 (11) :1233-1239

[8] Loss-of-Function Mutations of CHST14 in a New Type of Ehlers-Danlos Syndrome [J].

Miyake, Noriko ;

Kosho, Tomoki ;

Mizumoto, Shuji ;

Furuichi, Tatsuya ;

Hatamochi, Atsushi ;

Nagashima, Yoji ;

Arai, Eiichi ;

Takahashi, Kazuo ;

Kawamura, Rie ;

Wakui, Keiko ;

Takahashi, Jun ;

Kato, Hiroyuki ;

Yasui, Hiroshi ;

Ishida, Tadao ;

Ohashi, Hirofumi ;

Nishimura, Gen ;

Shiina, Masaaki ;

Saitsu, Hirotomo ;

Tsurusaki, Yoshinori ;

Doi, Hiroshi ;

Fukushima, Yoshimitsu ;

Ikegawa, Shiro ;

Yamada, Shuhei ;

Sugahara, Kazuyuki ;

Matsumoto, Naomichi .

HUMAN MUTATION, 2010, 31 (08) :966-974

[9] Congenital Disorders of Glycosylation with Emphasis on loss of Dermatan-4-Sulfotransferase [J].

Zhang, Lijuan ;

Mueller, Thomas ;

Baenziger, Jacques U. ;

Janecke, Andreas R. .

GLYCOSAMINOGLYCANS IN DEVELOPMENT, HEALTH AND DISEASE, 2010, 93 :289-307

← 1 →