Literature DB >> 18759095

Peters plus syndrome.

Seema Kapoor1, Sharmila Banerjee Mukherjee, Ritu Arora, Daraius Shroff.   

Abstract

A 10-year-old boy, issue of unrelated parents presented with visual impairment, short stature and mental retardation. The presence of a Peters' anomaly, mental retardation, disproportionate short stature, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome. Analysis of his genomic DNA revealed a homozygous deletion in the beta1,3-galactosyltransferase-like gene (B3GALTL), a recently identified gene.

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Year:  2008        PMID： 18759095     DOI： 10.1007/s12098-008-0122-6

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  8 in total

1.  Anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3.

Authors:  I K Temple; C Browne; P Hodgkins
Journal:  Clin Dysmorphol       Date:  1999-07       Impact factor: 0.816

2.  Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion.

Authors:  Edward Neilan; Yana Pikman; Virginia E Kimonis
Journal:  Ophthalmic Genet       Date:  2006-06       Impact factor: 1.803

3.  Peters' anomaly associated with partial deletion of the long arm of chromosome 11.

Authors:  J B Bateman; I H Maumenee; R S Sparkes
Journal:  Am J Ophthalmol       Date:  1984-01       Impact factor: 5.258

4.  Peters'-plus: a new syndrome.

Authors:  M J van Schooneveld; J W Delleman; F A Beemer; E M Bleeker-Wagemakers
Journal:  Ophthalmic Paediatr Genet       Date:  1984-12

5.  Peters' anomaly in association with ring 21 chromosomal abnormality.

Authors:  G W Cibis; J Waeltermann; D J Harris
Journal:  Am J Ophthalmol       Date:  1985-11-15       Impact factor: 5.258

6.  Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Authors:  Saskia A J Lesnik Oberstein; Marjolein Kriek; Stefan J White; Margot E Kalf; Karoly Szuhai; Johan T den Dunnen; Martijn H Breuning; Raoul C M Hennekam
Journal:  Am J Hum Genet       Date:  2006-07-19       Impact factor: 11.025

Review 7.  The Peters' plus syndrome: a review.

Authors:  Liesbeth J J M Maillette de Buy Wenniger-Prick; Raoul C M Hennekam
Journal:  Ann Genet       Date:  2002 Apr-Jun

8.  Peters' anomaly and combination with other malformations (series of 16 patients).

Authors:  U M Mayer
Journal:  Ophthalmic Paediatr Genet       Date:  1992-06
  8 in total
  5 in total

1.  Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Authors:  E Weh; L M Reis; R C Tyler; D Bick; W J Rhead; S Wallace; T L McGregor; S K Dills; M-C Chao; J C Murray; E V Semina
Journal:  Clin Genet       Date:  2013-09-17       Impact factor: 4.438

Review 2.  Genetics of anterior segment dysgenesis disorders.

Authors:  Linda M Reis; Elena V Semina
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

3.  A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.

Authors:  Chad R Haldeman-Englert; Taiyabah Naeem; Elizabeth A Geiger; Ashley Warnock; Holly Feret; Melissa Ciano; Stefanie L Davidson; Matthew A Deardorff; Elaine H Zackai; Tamim H Shaikh
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

4.  Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.

Authors:  Eric Weh; Hideyuki Takeuchi; Sanaa Muheisen; Robert S Haltiwanger; Elena V Semina
Journal:  PLoS One       Date:  2017-09-19       Impact factor: 3.240

5.  Peter Plus Syndrome: A Neurosurgeon's Perspective.

Authors:  Deepak Khatri; Jaskaran S Gosal; Kuntal K Das; Kamlesh S Bhaisora
Journal:  J Pediatr Neurosci       Date:  2019-09-27
  5 in total

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