title: Mutation analysis of B3GALTL in Peters Plus syndrome.
abstract: Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the beta1,3-glucosyltransferase gene (B3GALTL) were recently reported in 20 out of 20 patients with Peters Plus syndrome. In our study, B3GALTL was examined in four patients with typical Peters Plus syndrome and four patients that demonstrated a phenotypic overlap with this condition. Mutations in B3GALTL were identified in all four patients with typical Peters Plus syndrome, while no mutations were found in the remaining four patients that demonstrated some but not all characteristic features of the syndrome. The previously reported common mutation, c.660 + 1G > A, accounted for 75% of the mutant alleles in our Peters Plus syndrome population. In addition, two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products. These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition.
authors.affiliation: Division of Human Molecular Embryology, Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.
authors.forename: Linda M
authors.initials: LM
authors.lastname: Reis
authors.forename: Rebecca C
authors.initials: RC
authors.lastname: Tyler
authors.forename: Omar
authors.initials: O
authors.lastname: Abdul-Rahman
authors.forename: Pamela
authors.initials: P
authors.lastname: Trapane
authors.forename: Robert
authors.initials: R
authors.lastname: Wallerstein
authors.forename: Diane
authors.initials: D
authors.lastname: Broome
authors.forename: Jodi
authors.initials: J
authors.lastname: Hoffman
authors.forename: Aneal
authors.initials: A
authors.lastname: Khan
authors.forename: Christina
authors.initials: C
authors.lastname: Paradiso
authors.forename: Nitin
authors.initials: N
authors.lastname: Ron
authors.forename: Amanda
authors.initials: A
authors.lastname: Bergner
authors.forename: Elena V
authors.initials: EV
authors.lastname: Semina
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics*; D005964:Glucosyltransferases; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D013577:Syndrome
chemical_list: C514116:B3GLCT protein, human; D005700:Galactosyltransferases; D005964:Glucosyltransferases
references.citation: Graefes Arch Clin Exp Ophthalmol. 2000 Oct;238(10):833-9
references.pmid: 11127570
references.citation: Dev Dyn. 2000 Jun;218(2):280-99
references.pmid: 10842357
references.citation: Am J Hum Genet. 2006 Sep;79(3):562-6
references.pmid: 16909395
references.citation: DNA Cell Biol. 2006 Aug;25(8):465-74
references.pmid: 16907644
references.citation: J Biol Chem. 2006 Dec 1;281(48):36742-51
references.pmid: 17032646
references.citation: J Biol Chem. 2008 Mar 21;283(12):7354-60
references.pmid: 18199743
references.citation: Ann Genet. 2002 Apr-Jun;45(2):97-103
references.pmid: 12119218
references.citation: Ultrasound Obstet Gynecol. 2005 Jun;25(6):602-6
references.pmid: 15912477
references.citation: Cell. 2006 Sep 8;126(5):855-67
references.pmid: 16959566
references.citation: Am J Med Genet. 1991 Jul 1;40(1):34-40
references.pmid: 1887847
references.citation: Ophthalmic Paediatr Genet. 1992 Jun;13(2):137-43
references.pmid: 1495764
references.citation: J Cell Biol. 2002 Oct 28;159(2):203-6
references.pmid: 12403807
references.citation: Clin Dysmorphol. 1993 Oct;2(4):301-16
references.pmid: 7508317
references.citation: Glycobiology. 2006 Dec;16(12):1194-206
references.pmid: 16899492
references.citation: Biochem Biophys Res Commun. 2003 Sep 12;309(1):166-74
references.pmid: 12943678