A homozygous missense variant in PTPN2 with early-onset Crohn’s disease, growth failure and dysmorphic features in an infant: a case report

Bolton C., Smillie C. S., Pandey S., Elmentaite R., Wei G., Argmann C. et al. 2022 An integrated taxonomy for monogenic inflammatory bowel disease. Gastroenterology 162, 859–876.

Article  CAS  PubMed  Google Scholar 

Cheema H. A., Waheed N., Saeed A., Fayyaz Z., Anjum M. N., Alvi M. A. et al. 2021 Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children. J. Pak. Med. Assoc. 71, 2350–2354.

Article  PubMed  Google Scholar 

Chen C. P., Lin S. P., Chern S. R., Wu P. S., Chen S. W., Lai S. T. et al. 2018 A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. Taiwan J. Obstet. Gynecol. 57, 583–587.

Article  PubMed  Google Scholar 

Collen L. V., Kim D. Y., Field M., Okoroafor I., Saccocia G., Whitcomb S. D. et al. 2022 Clinical phenotypes and outcomes in monogenic versus non-monogenic very early onset inflammatory bowel disease. J. Crohns Colitis. 16, 1380–1396.

Article  PubMed  PubMed Central  Google Scholar 

Cool D. E., Tonks N. K., Charbonneau H., Walsh K. A., Fischer E. H. and Krebs E. G. 1989 cDNA isolated from a human T-cell library encodes a member of the protein-tyrosine-phosphatase family. Proc. Natl. Acad. Sci. USA 86, 5257–5261.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Feuerstein J. D. and Cheifetz A. S. 2017 Crohn disease: epidemiology, diagnosis, and management. Mayo Clin. Proc. 92, 1088–1103.

Article  CAS  PubMed  Google Scholar 

Franke A., Balschun T., Karlsen T. H., Hedderich J., May S., Lu T. et al. 2008 Replication of signals from recent studies of Crohn’s disease identifies previously unknown disease loci for ulcerative colitis. Nat. Genet. 40, 713–715.

Article  CAS  PubMed  Google Scholar 

Glas J., Wagner J., Seiderer J., Olszak T., Wetzke M., Beigel F. et al. 2012 PTPN2 gene variants are associated with susceptibility to both Crohn’s disease and ulcerative colitis supporting a common genetic disease background. PLoS One 7, e33682.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kopanos C., Tsiolkas V., Kouris A., Chapple C. E., Albarca Aguilera M., Meyer R. et al. 2019 VarSome: the human genomic variant search engine. Bioinformatics 35, 1978–1980.

Article  CAS  PubMed  Google Scholar 

Lees C. W., Barrett J. C., Parkes M. and Satsangi J. 2011 New IBD genetics: common pathways with other diseases. Gut 60, 1739–1753.

Article  CAS  PubMed  Google Scholar 

Li H. and Durbin R. 2009 Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754–1760.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Livak K. J. and Schmittgen T. D. 2001 Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 25, 402–408.

Article  CAS  PubMed  Google Scholar 

Marcil V., Mack D. R., Kumar V., Faure C., Carlson C. S., Beaulieu P. et al. 2013 Association between the PTPN2 gene and Crohn’s disease: dissection of potential causal variants. Inflamm. Bowel Dis. 19, 1149–1155.

Article  PubMed  Google Scholar 

Parlato M., Nian Q., Charbit-Henrion F., Ruemmele F. M., Rodrigues-Lima F., Cerf-Bensussan N. et al. 2020 Loss-of-function mutation in PTPN2 causes aberrant activation of JAK signaling via STAT and very early onset intestinal inflammation. Gastroenterology 159, 1968–1971.

Article  CAS  PubMed  Google Scholar 

Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J. et al. 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet. Med. 17, 405–424.

Article  PubMed  PubMed Central  Google Scholar 

Rioux J. D., Xavier R. J., Taylor K. D., Silverberg M. S., Goyette P., Huett A. et al. 2007 Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat. Genet. 39, 596–604.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Scharl M., Wojtal K. A., Becker H. M., Fischbeck A., Frei P., Arikkat J. et al. 2012 Protein tyrosine phosphatase nonreceptor type 2 regulates autophagosome formation in human intestinal cells. Inflamm. Bowel Dis. 18, 1287–1302.

Article  PubMed  Google Scholar 

Sharp R. C., Abdulrahim M., Naser E. S. and Naser S. A. 2015 Genetic variations of PTPN2 and PTPN22: role in the pathogenesis of type 1 diabetes and Crohn’s disease. Front. Cell. Infect. Microbiol. 5, 95.

Article  PubMed  PubMed Central  Google Scholar 

Sharp R. C., Beg S. A. and Naser S. A. 2018 Role of PTPN2/22 polymorphisms in pathophysiology of Crohn’s disease. World J. Gastroenterol. 24, 657–670.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Spalinger M. R., McCole D. F., Rogler G. and Scharl M. 2016 Protein tyrosine phosphatase non-receptor type 2 and inflammatory bowel disease. World J. Gastroenterol. 22, 1034–1044.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Thaventhiran J., Lango Allen H., Burren O. S., Rae W., Greene D. et al. 2020 Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature 583, 90–95.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wellcome Trust Case Control Consortium 2007 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 447, 661–678.

Article  Google Scholar 

Zhang Y. Z. and Li Y. Y. 2014 Inflammatory bowel disease: pathogenesis. World J. Gastroenterol. 20, 91–99.

Article  PubMed  PubMed Central  Google Scholar 

Zhu M., Need A. C., Han Y., Ge D., Maia J. M., Zhu Q. et al. 2012 Using ERDS to infer copy-number variants in high-coverage genomes. Am. J. Hum. Genet. 91, 408–421.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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