Mutation analysis of B3GALTL in Peters Plus syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 20, 2008, Pages 2603-2610

  Reis, Linda M ^a   Tyler, Rebecca C ^a   Abdul Rahman, Omar ^b   Trapane, Pamela ^c   Wallerstein, Robert ^d   Broome, Diane ^e   Hoffman, Jodi ^f   Khan, Aneal ^g   Paradiso, Christina ^h   Ron, Nitin ⁱ   Bergner, Amanda ^j   Semina, Elena V ^a,c  

^a CHILDREN S HOSPITAL OF WISCONSIN   (United States)

^b UNIVERSITY OF MISSISSIPPI   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

^d HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

^e KAISER PERMANENTE   (United States)

^f TUFTS MEDICAL CENTER   (United States)

^g UNIVERSITY OF CALGARY   (Canada)

^h NEW YORK METHODIST HOSPITAL   (United States)

ⁱ MCMASTER CHILDREN S HOSPITAL   (Canada)

^j JOHNS HOPKINS UNIVERSITY   (United States)

more..

Author keywords

B3GALTL; B3GTL; Congenital disorders of glycosylation; Glycosylation; Peters anomaly; Peters Plus syndrome

Indexed keywords

BETA 1,3 GLUCOSYLTRANSFERASE; GLUCOSYLTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; B3GALTL GENE; BRACHYDACTYLY; BRAIN VENTRICLE PERITONEUM SHUNT; BUPHTHALMOS; CATARACT; CHILD; CHROMOSOME ANALYSIS; CLEFT LIP PALATE; CLINICAL ARTICLE; CLINODACTYLY; COLOBOMA; COMPUTER ASSISTED TOMOGRAPHY; CRYPTORCHISM; ECHOCARDIOGRAPHY; EXON; FACE ASYMMETRY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GLAUCOMA; HEART ATRIUM SEPTUM DEFECT; HIP DYSPLASIA; HUMAN; HYDRAMNIOS; HYDROCELE; HYDROCEPHALUS; HYDRONEPHROSIS; HYPERTELORISM; HYPERTRICHOSIS; INTRAOCULAR PRESSURE; LARYNGOMALACIA; MACROCEPHALY; MALE; MALROTATION SYNDROME; MAXILLA HYPOPLASIA; MICROGNATHIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PETERS PLUS SYNDROME; PHENOTYPE; PHILTRUM; PRIORITY JOURNAL; SEIZURE; ULTRASOUND;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; EYE ABNORMALITIES; FEMALE; GALACTOSYLTRANSFERASES; GLYCOSYLATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; SYNDROME;

EID: 55549109436     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32498     Document Type: Article

References (16)

1. Adams JC, Tucker RP. 2000. The thrombospondin type 1 repeat (TSR) superfamily: Diverse proteins with related roles in neuronal development. Dev Dyn 218:280-299.
2. Boog G, Le Vaillant C, Joubert M. 2005. Prenatal sonographic findings in Peters Plus syndrome. Ultrasound Obstet Gynecol 25:602-606.
3. Frydman M, Weinstock AL, Cohen HA, Savir H, Varsano I. 1991. Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: Further delineation of the Krause-Kivlin syndrome. Am J Med Genet 40:34-40.
4. Heinonen TY, Pasternack L, Lindfors K, Breton C, Gastinel LN, Maki M, Kainulainen H. 2003. A novel human glycosyltransferase: Primary structure and characterization of the gene and transcripts. Biochem Biophys Res Commun 309:166-174.
5. Heinonen TY, Pelto-Huikko M, Pasternack L, Mäki M, Kainulainen H. 2006. Murine ortholog of the novel glycosyltransferase, B3GTL: Primary structure, characterization of the gene and transcripts, and expression in tissues. DNA Cell Biol 25:465-474.
6. Heon E, Barsoum-Homsy M, Cevrette L, Jacob JL, Milot J, Polemeno R, Musarella MA. 1992. Peters' anomaly: The spectrum of associated ocular and systemic malformations. Ophthalmic Paediatr Genet 13:137-143.
7. Hess D, Keusch JJ, Lesnik Oberstein SA, Hennekam RC, Hofsteenge J. 2008. Peters plus syndrome is a new congenital disorder of glycosylation and involves defective O-glycosylation of thrombospondin type 1 repeats. J Biol Chem 283:7354-7360.
8. Kozma K, Keusch JJ, Hegemann B, Luther KB, Klein D, Hess D, Haltiwanger RS, Hofsteenge J. 2006. Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats. J Biol Chem 281:36742-36751.
9. Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. 2006. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 79:562-566.
10. Maillette deBuy Wenniger-Prick LJJM, Hennekam RC. 2002. The Peters' plus syndrome: A review. Ann Genet 45:97-103.
11. Ohtsubo K, Marth JD. 2006. Glycosylation in cellular mechanisms of health and disease. Cell 126:855-867.
12. Ozeki H, Shirai S, Nozaki M, Sakurai E, Mizuno S, Ashikari M, Matsunaga N, Ogura Y. 2000. Ocular and systemic features of Peters' anomaly. Graefes Arch Clin Exp Ophthalmol 238:833-839.
13. Peters A. 1906. Uber angeborene Defektbildung des Descemet' schen Membran. Klin Mbl Augenheilk 44:27-40.
14. Sato T, Sato M, Kiyohara K, Sogabe M, Shikanai T, Kikuchi N, Togayachi A, Ishida H, Ito H, Kameyama A, Gotoh M, Narimatsu H. 2006. Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. Glycobiology 16:1194-1206.
15. Silverstein RL. 2002. The face of TSR revealed: An extracellular signaling domain is exposed. J Cell Biol 159:203-206.
16. Thompson EM, Winter RM, Baraitser M. 1993. Kivlin syndrome and Peters'-Plus syndrome: Are they the same disorder? Clin Dysmorphol 2:301-316.