TY - JOUR
T1 - Mutation analysis of B3GALTL in Peters Plus syndrome
AU - Reis, Linda M.
AU - Tyler, Rebecca C.
AU - Abdul-Rahman, Omar
AU - Trapane, Pamela
AU - Wallerstein, Robert
AU - Broome, Diane
AU - Hoffman, Jodi
AU - Khan, Aneal
AU - Paradiso, Christina
AU - Ron, Nitin
AU - Bergner, Amanda
AU - Semina, Elena V.
PY - 2008/10/15
Y1 - 2008/10/15
N2 - 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 β1,3-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.
AB - 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 β1,3-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.
KW - B3GALTL
KW - B3GTL
KW - Congenital disorders of glycosylation
KW - Glycosylation
KW - Peters Plus syndrome
KW - Peters anomaly
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U2 - 10.1002/ajmg.a.32498
DO - 10.1002/ajmg.a.32498
M3 - Article
C2 - 18798333
AN - SCOPUS:55549109436
SN - 1552-4825
VL - 146
SP - 2603
EP - 2610
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 20
ER -