Peters-plus syndrome
| Peters-plus syndrome | |
|---|---|
| Other names | Krause–van Schooneveld–Kivlin syndrome |
 | |
| This condition is inherited in an autosomal recessive manner | |
Peters-plus syndrome or Krause–Kivlin syndrome is a hereditary syndrome defined by Peters' anomaly, dwarfism and intellectual disability.[1][2]
Signs and symptoms[edit]
Features of this syndrome include Peters' anomaly, corneal opacity, central defect of Descemet's membrane, and shallow anterior chamber with synechiae between the iris and cornea.[citation needed]
Craniofacial abnormalities commonly seen in patients with PPS include hypertelorism, ear malformations, micrognathia, round face and broad neck, and cleft lip and palate.[1]
Infants are commonly born small for gestational age and have delayed growth. It is associated with short limb dwarfism and mild to severe intellectual disability and autism spectrum disorder.[1]
Cause[edit]
The pattern of inheritance of Peters-plus is autosomal recessive, where both parents are heterozygous they can produce a child with the syndrome. The B3GALTL[3] (now called B3GLCT) gene codes for the enzyme beta 3-glucosyltransferase (B3Glc-T).[4]
The beta 3-glucosyltransferase enzyme is responsible for glycosylation, 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 secondary structure of the mRNA. These mutations of the B3GLCT gene lead to the production of an abnormally short, nonfunctional version of the beta 3-glucosyltransferase (B3Glc-T) enzyme, which disrupts glycosylation.[5]
The phenotypic effects of the B3GLCT mutations result in a triad of well known phenotypes; Peters anomaly (also classified as anterior segment defects, a defect in the anterior cornea), short stature, brachydactyly, in addition to several other less frequently observed phenotypes.[6] 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.[7]
History[edit]
Krause–van Schooneveld–Kivlin syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).[8]
It was characterized in 1984 by van Schooneveld.[9]
See also[edit]
References[edit]
- ^ a b c Smith's Recognizable Patterns of Human Malformation (7 ed.). Elsevier. 2013. pp. 752–795.
- ^ "Krause–Kivlin syndrome'". U. S. National Library of Medicine Congenital Syndromes Database Archives. NIH. Retrieved 3 August 2012.
- ^ 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). "Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes". Clinical Genetics. 86 (2): 142–148. doi:10.1111/cge.12241. ISSN 0009-9163. PMC 4103962. PMID 23889335.
- ^ Heinonen, Taisto Y. K.; Maki, Markku (2009). "Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats". Annals of Medicine. 41 (1): 2–10. doi:10.1080/07853890802301975. ISSN 1365-2060. PMID 18720094. S2CID 33364600.
- ^ Siala, Olfa; Belguith, Neila; Kammoun, Hassen; Kammoun, Bourane; Hmida, Nedia; Chabchoub, Imen; Hchicha, Mongia; Fakhfakh, Faiza (2012-10-01). "Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure". Gene. 507 (1): 68–73. doi:10.1016/j.gene.2012.06.052. ISSN 0378-1119. PMID 22759511.
- ^ Weh, Eric; Takeuchi, Hideyuki; Muheisen, Sanaa; Haltiwanger, Robert S.; Semina, Elena V. (2017-09-19). "Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome". PLOS ONE. 12 (9): e0184903. Bibcode:2017PLoSO..1284903W. doi:10.1371/journal.pone.0184903. ISSN 1932-6203. PMC 5604996. PMID 28926587.
- ^ 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). "Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes". Clinical Genetics. 86 (2): 142–148. doi:10.1111/cge.12241. ISSN 1399-0004. PMC 4103962. PMID 23889335.
- ^ "Peters plus syndrome". Genetic and Rare Diseases Information Center (GARD). NIH. Retrieved 3 August 2012.
- ^ van Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers EM (December 1984). "Peters'-plus: a new syndrome". Ophthalmic Paediatr Genet. 4 (3): 141–5. doi:10.3109/13816818409006113. PMID 6443615.