Portal de Periódicos da CAPES

Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/ CHST14 ) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient adducted thumb–clubfoot syndrome”

2011; Wiley; Volume: 32; Issue: 4 Linguagem: Inglês

10.1002/humu.21440

1098-1004

Andreas Janecke, Jacques Baenziger, Thomas Müller, Munis Dündar,

Glycosylation and Glycoproteins Research

Human MutationVolume 32, Issue 4 p. 484-485 Letter to the Editors Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb–clubfoot syndrome" Andreas R. Janecke, Corresponding Author Andreas R. Janecke [email protected] Department of Pediatrics II, Innsbruck Medical University, Innsbruck, Austria Division of Human Genetics, Innsbruck Medical University, Innsbruck, AustriaDepartment of Pediatrics II, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, AustriaSearch for more papers by this authorJacques U. Baenziger, Jacques U. Baenziger Departments of Pathology and Immunology, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorThomas Müller, Thomas Müller Department of Pediatrics II, Innsbruck Medical University, Innsbruck, AustriaSearch for more papers by this authorMunis Dündar, Munis Dündar Department of Medical Genetics, Erciyes University, Talas, Kayseri, TurkeySearch for more papers by this author Andreas R. Janecke, Corresponding Author Andreas R. Janecke [email protected] Department of Pediatrics II, Innsbruck Medical University, Innsbruck, Austria Division of Human Genetics, Innsbruck Medical University, Innsbruck, AustriaDepartment of Pediatrics II, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, AustriaSearch for more papers by this authorJacques U. Baenziger, Jacques U. Baenziger Departments of Pathology and Immunology, Washington University School of Medicine, St. Louis, MissouriSearch for more papers by this authorThomas Müller, Thomas Müller Department of Pediatrics II, Innsbruck Medical University, Innsbruck, AustriaSearch for more papers by this authorMunis Dündar, Munis Dündar Department of Medical Genetics, Erciyes University, Talas, Kayseri, TurkeySearch for more papers by this author First published: 25 January 2011 https://doi.org/10.1002/humu.21440Citations: 13Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References Dundar M, Demiryilmaz F, Demiryilmaz I, Kumandas S, Erkilic K, Kendirci M, Tuncel M, Ozyazgan I, Tolmie JL. 1997. An autosomal recessive adducted thumb–club foot syndrome observed in Turkish cousins. Clin Genet 51: 61–64. 10.1111/j.1399-0004.1997.tb02417.x CASPubMedWeb of Science®Google Scholar Dundar M, Kurtoglu S, Elmas B, Demiryilmaz F, Candemir Z, Ozkul Y, Durak AC. 2001. A case with adducted thumb and club foot syndrome. Clin Dysmorphol 10: 291–293. 10.1097/00019605-200110000-00012 CASPubMedWeb of Science®Google Scholar Dundar M, Muller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR. 2009. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb–clubfoot syndrome. Am J Hum Genet 85: 873–882. 10.1016/j.ajhg.2009.11.010 CASPubMedWeb of Science®Google Scholar Evers MR, Xia G, Kang HG, Schachner M, Baenziger JU. 2001. Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase. J Biol Chem 276: 36344–36353. 10.1074/jbc.M105848200 CASPubMedWeb of Science®Google Scholar Janecke AR, Unsinn K, Kreczy A, Baldissera I, Gassner I, Neu N, Utermann G, Muller T. 2001. Adducted thumb–club foot syndrome in sibs of a consanguineous Austrian family. J Med Genet 38: 265–269. 10.1136/jmg.38.4.265 CASPubMedWeb of Science®Google Scholar Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N. 2010. A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. Am J Med Genet A 152A: 1333–1346. 10.1002/ajmg.a.33498 CASPubMedWeb of Science®Google Scholar Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Le T, Van Laer L, De Paepe A. 2010. 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. Hum Mutat 31: 1233–1239. 10.1002/humu.21355 CASPubMedWeb of Science®Google Scholar Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. 2010. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat 31: 966–974. 10.1002/humu.21300 CASPubMedWeb of Science®Google Scholar Zhang L, Muller T, Baenziger JU, Janecke AR. 2010. Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase. Prog Mol Biol Transl Sci 93: 289–307. 10.1016/S1877-1173(10)93012-3 CASPubMedWeb of Science®Google Scholar Citing Literature Volume32, Issue4April 2011Pages 484-485 ReferencesRelatedInformation