172:, in addition to several other less frequently observed phenotypes. A study of 55 patients with Peters-plus-related phenotypes, but lacking the most common combination (Peters anomaly, short stature, and brachydactyly), revealed none of those cases displayed mutation in the B3GLCT gene. Thus PPS-like signs and symptoms, when they occur independently of each other, provide strong evidence that the B3GLCT gene mutation is in fact responsible for actual cases Peters-plus syndrome.
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153:, the attachment of sugars to proteins, which through this modification allows for performance of a wider variety of functions. The mutations of the B3GLCT gene in affected individuals results in loss-of-function of the beta 3-glucosyltransferase enzyme. The result of this disruption in glycosylation is a change to the
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Weh, Eric; Reis, Linda M.; Tyler, Rebecca C.; Bick, David; Rhead, William J.; Wallace, Stephanie; McGregor, Tracy L.; Dills, Shelley K.; Chao, Mei-Chyn; Murray, Jeffrey C.; Semina, Elena V. (August 2014).
146:, where both parents are heterozygous they can produce a child with the syndrome. The B3GALTL (now called B3GLCT) gene codes for the enzyme beta 3-glucosyltransferase (B3Glc-T).
321:"Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats"
490:
Weh, E.; Reis, L. M.; Tyler, R. C.; Bick, D.; Rhead, W. J.; Wallace, S.; McGregor, T. L.; Dills, S. K.; Chao, M.-C.; Murray, J. C.; Semina, E. V. (August 2014).
378:"Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure"
165:
376:
Siala, Olfa; Belguith, Neila; Kammoun, Hassen; Kammoun, Bourane; Hmida, Nedia; Chabchoub, Imen; Hchicha, Mongia; Fakhfakh, Faiza (2012-10-01).
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425:"Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome"
492:"Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes"
264:"Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes"
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of the mRNA. These mutations of the B3GLCT gene lead to the production of an abnormally short, nonfunctional version of the beta 3-
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The phenotypic effects of the B3GLCT mutations result in a triad of well known phenotypes; Peters anomaly (also classified as
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van
Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers EM (December 1984). "Peters'-plus: a new syndrome".
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Krause–van
Schooneveld–Kivlin syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the
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Infants are commonly born small for gestational age and have delayed growth. It is associated with short limb
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Weh, Eric; Takeuchi, Hideyuki; Muheisen, Sanaa; Haltiwanger, Robert S.; Semina, Elena V. (2017-09-19).
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Craniofacial abnormalities commonly seen in patients with PPS include
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This condition is inherited in an autosomal recessive manner
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The beta 3-glucosyltransferase enzyme is responsible for
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GeneReviews/NCBI/NIH/UW entry on Peters Plus
Syndrome
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Genetic and Rare
Diseases Information Center (GARD)
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168:, a defect in the anterior cornea), short stature,
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187:It was characterized in 1984 by van Schooneveld.
161:(B3Glc-T) enzyme, which disrupts glycosylation.
224:(7 ed.). Elsevier. 2013. pp. 752–795.
319:Heinonen, Taisto Y. K.; Maki, Markku (2009).
142:The pattern of inheritance of Peters-plus is
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30:Krause–van Schooneveld–Kivlin syndrome
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710:OMIM entries on Peters Plus syndrome
96:, and shallow anterior chamber with
84:Features of this syndrome include
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111:, round face and broad neck, and
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182:National Institutes of Health
100:between the iris and cornea.
450:10.1371/journal.pone.0184903
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394:10.1016/j.gene.2012.06.052
587:10.3109/13816818409006113
575:Ophthalmic Paediatr Genet
338:10.1080/07853890802301975
236:"Krause–Kivlin syndrome'"
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166:anterior segment defects
132:autism spectrum disorder
128:intellectual disability
74:intellectual disability
548:"Peters plus syndrome"
55:Krause–Kivlin syndrome
107:, ear malformations,
92:, central defect of
51:Peters-plus syndrome
22:Peters-plus syndrome
441:2017PLoSO..1284903W
159:glucosyltransferase
155:secondary structure
144:autosomal recessive
126:and mild to severe
94:Descemet's membrane
677:External resources
325:Annals of Medicine
80:Signs and symptoms
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508:10.1111/cge.12241
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64:defined by
27:Other names
203:References
59:hereditary
725:eMedicine
721:eMedicine
667:449817000
662:SNOMED CT
516:1399-0004
459:1932-6203
402:0378-1119
347:1365-2060
288:0009-9163
113:cleft lip
98:synechiae
734:Category
686:Orphanet
558:3 August
534:23889335
477:28926587
429:PLOS ONE
410:22759511
363:33364600
355:18720094
306:23889335
246:3 August
191:See also
124:dwarfism
70:dwarfism
62:syndrome
656:C537617
635:: Q13.4
595:6443615
525:4103962
468:5604996
437:Bibcode
297:4103962
184:(NIH).
176:History
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117:palate
554:. NIH
359:S2CID
242:. NIH
138:Cause
57:is a
651:MeSH
640:OMIM
591:PMID
560:2012
530:PMID
512:ISSN
473:PMID
455:ISSN
406:PMID
398:ISSN
382:Gene
351:PMID
343:ISSN
302:PMID
284:ISSN
248:2012
130:and
115:and
72:and
723:on
719:at
691:709
628:ICD
583:doi
520:PMC
504:doi
463:PMC
445:doi
390:doi
386:507
333:doi
292:PMC
276:doi
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
