Mutation analysis of B3GALTL in Peters Plus syndrome.
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.
Reis
Linda M
LM
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.
Tyler
Rebecca C
RC
Abdul-Rahman
Omar
O
Trapane
Pamela
P
Wallerstein
Robert
R
Broome
Diane
D
Hoffman
Jodi
J
Khan
Aneal
A
Paradiso
Christina
C
Ron
Nitin
N
Bergner
Amanda
A
Semina
Elena V
EV
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
C514116:B3GLCT protein, human; D005700:Galactosyltransferases; D005964:Glucosyltransferases
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