Document Detail

Mutation analysis of B3GALTL in Peters Plus syndrome.
MedLine Citation:
PMID:  18798333     Owner:  NLM     Status:  MEDLINE    
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.
Linda M Reis; Rebecca C Tyler; Omar Abdul-Rahman; Pamela Trapane; Robert Wallerstein; Diane Broome; Jodi Hoffman; Aneal Khan; Christina Paradiso; Nitin Ron; Amanda Bergner; Elena V Semina
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-09-30     Completed Date:  2008-11-12     Revised Date:  2013-05-13    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2603-10     Citation Subset:  IM    
Copyright Information:
2008 Wiley-Liss, Inc.
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.
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MeSH Terms
Abnormalities, Multiple / genetics*
Base Sequence
Child, Preschool
Eye Abnormalities / genetics*
Galactosyltransferases / genetics*
Infant, Newborn
Molecular Sequence Data
Grant Support
EY013606/EY/NEI NIH HHS; EY015518/EY/NEI NIH HHS; M01 RR00058/RR/NCRR NIH HHS; R01 EY013606/EY/NEI NIH HHS; R01 EY013606-05/EY/NEI NIH HHS; R01 EY015518/EY/NEI NIH HHS; R01 EY015518-04/EY/NEI NIH HHS
Reg. No./Substance:
EC 2.4.1.-/B3GALTL protein, human; EC 2.4.1.-/Galactosyltransferases; EC 2.4.1.-/Glucosyltransferases

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