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Editorial

C syndrome - what do we know and what could the future hold?

ORCID Icon, &
Pages 91-94 | Received 06 Sep 2018, Accepted 27 Feb 2019, Published online: 07 Mar 2019

References

  • Opitz JM, Johnson RC, McCreadie SR, et al. The C syndrome of multiple congenital anomalies. Birth Defects Orig Art Series. 1969;2:161–166.
  • Preus M, Alexander WJ, Fraser FC. The C syndrome. Birth Defects Orig Art Series. 1975;11(2):58–62.
  • Oberklaid F, Danks DM. The Opitz trigonocephaly syndrome. A case report. Am J Dis Child. 1975 Nov;129(11):1348–1349.
  • Antley RM, Hwang DS, Theopold W, et al. Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet. 1981;9(2):147–163.
  • Lalatta F, Clerici Bagozzi D, Salmoiraghi MG, et al. “C” trigonocephaly syndrome: clinical variability and possibility of surgical treatment. Am J Med Genet. 1990 Dec;37(4):451–456.
  • Stratton RF, Sykes NJ, Hassler TW. C syndrome with apparently normal development. Am J Med Genet. 1990 Dec;37(4):460–462.
  • Zampino G, Di Rocco C, Butera G, et al. Opitz C trigonocephaly syndrome and midline brain anomalies. Am J Med Genet. 1997 Dec 31;73(4):484–488.
  • Bohring A, Silengo M, Lerone M, et al. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet. 1999 Aug 27;85(5):438–446.
  • Opitz JM, Putnam AR, Comstock JM, et al. Mortality and pathological findings in C (Opitz trigonocephaly) syndrome. Fetal Pediatr Pathol. 2006 Jul-Aug;25(4):211–231.
  • Flatz SD, Schinzel A, Doehring E, et al. Optiz trigonocephaly syndrome: report of two cases. Eur J Pediatr. 1984 Jan;141(3):183–185.
  • Sargent C, Burn J, Baraitser M, et al. Trigonocephaly and the Opitz C syndrome. J Med Genet. 1985 Feb;22(1):39–45.
  • Fryns JP, Snoeck L, Kleczkowska A, et al. Opitz trigonocephaly syndrome and terminal transverse limb reduction defects. Helv Paediatr Acta. 1985;40(6):485–488.
  • Preus M, Vekemans M, Kaplan P. Diagnosis of chromosome 3 duplication q23—-qter, deletion p25—-pter in a patient with the C (trigonocephaly) syndrome. Am J Med Genet. 1986 Apr;23(4):935–943.
  • Camera G, Serra G, Selicorni A. “C” trigonocephaly syndrome: two additional cases. Am J Med Genet. 1990 Dec;37(4):463–464.
  • De Koster J, Legius E, de Zegher F, et al. Opitz C syndrome and pseudohypoaldosteronism. Am J Med Genet. 1990 Dec;37(4):457–459.
  • Haaf T, Hofmann R, Schmid M. Opitz trigonocephaly syndrome. Am J Med Genet. 1991 Sep 15;40(4):444–446.
  • Choudhury AR, Renneberg A, Rackowitz A, et al. [Opitz-trigonocephaly syndrome–a characteristic dysmorphia-retardation syndrome of unclear origin]. Klin Padiatrie. 1992 May-Jun;204(3):171–173.
  • Schaap C, Schrander-Stumpel CT, Fryns JP. Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. Genet Couns. 1992;3(4):209–215.
  • Chu TW, Teebi AS, Gibson L, et al. FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype. Am J Med Genet. 1994 Aug 1;52(1):92–96.
  • Glickstein J, Karasik J, Caride DG, et al. “C” trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review. Am J Med Genet. 1995 Mar 27;56(2):215–218.
  • Sabry MA, Al Saleh Q, Farah S, et al. Another Arab patient with overlap of Varadi-Papp/Opitz trigonocephaly syndromes? Am J Med Genet. 1997 Jan 10;68(1):54–57.
  • Omran H, Hildebrandt F, Korinthenberg R, et al. Probable Opitz trigonocephaly C syndrome with medulloblastoma. Am J Med Genet. 1997 Apr 14;69(4):395–399.
  • McGaughran J, Aftimos S, Oei P. Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome. Am J Med Genet. 2000 Oct 2;94(4):311–315.
  • Weber P, Kuwertz-Broking E, Majewski F, et al. Retinitis pigmentosa, terminal renal insufficiency and Caroli syndrome: new associations with Opitz trigonocephaly syndrome. Klin Padiatrie. 2000 Jan-Feb;212(1):31–34.
  • Nacarkucuk E, Okan M, Sarimehmet H, et al. Opitz trigonocephaly C syndrome associated with hearing loss. Pediatr Int. 2003 Dec;45(6):731–733.
  • Czako M, Riegel M, Morava E, et al. Opitz “C” trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q. Am J Med Genet A. 2004 Dec 15;131(3):310–312.
  • Yatsenko SA, Cheung SW, Scott DA, et al. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet. 2005 Apr;42(4):328–335.
  • Chinen Y, Kaname T, Yanagi K, et al. Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). Am J Med Genet A. 2006 Aug 1;140(15):1655–1657.
  • Kaname T, Yanagi K, Chinen Y, et al. Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet. 2007 Oct;81(4):835–841.
  • Travan L, Pecile V, Fertz M, et al. Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report. J Med Case Rep. 2011;5:222.
  • Pokale Y, Priya B, Vedpathak J, et al. Case report: Opitz C syndrome with a rare chromosomal abnormality. Int J Hum Genet. 2014;14(2):67–71.
  • Urreizti R, Roca-Ayats N, Trepat J, et al. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A. 2016 Jan;170A(1):24–31.
  • Pena-Padilla C, Marshall CR, Walker S, et al. Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. Clin Genet. 2017 Apr;91(4):640–646.
  • Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, et al. A De Novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes. Sci Rep. 2017 Mar 10;7:44138.
  • Urreizti R, Damanti S, Esteve C, et al. A De Novo FOXP1 truncating mutation in a patient originally diagnosed as C syndrome. Sci Rep. 2018 Jan 12;8(1):694.
  • Phadphke SR, Patil SJ. Partial trisomy 13 with features similar to C syndrome. Indian Pediatr. 2004;41(6):614–617.
  • de Ravel T, Balikova I, Van Driessche J, et al. “Opitz C syndrome and pseudohypoaldosteronism” is caused by a chromosome 4q deletion. Am J Med Genet A. 2009 Jun;149A(6):1315–1316.
  • Kleefstra T, van Zelst-Stams WA, Nillesen WM, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet. 2009 Sep;46(9):598–606.
  • Say B, Meyer J. Familial trigonocephaly associated with short stature and developmental delay. Am J Dis Child. 1981 Aug;135(8):711–712.
  • Cleper R, Kauschansky A, Varsano I, et al. Varadi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. Am J Med Genet. 1993 Sep 15;47(4):451–455.
  • David G, Sillence D, Hardwick R, et al. A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome. Am J Med Genet A. 2004 Nov 1;130A(4):389–392.
  • Russell B, Johnston JJ, Biesecker LG, et al. Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet A. 2015 Apr 29;167:2122–2131.
  • Hoischen A, van Bon BW, Rodriguez-Santiago B, et al. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011 Aug;43(8):729–731.
  • Magini P, Della Monica M, Uzielli ML, et al. Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Am J Med Genet A. 2012 Apr;158A(4):917–921.
  • Bainbridge MN, Hu H, Muzny DM, et al. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013 Feb 5;5(2):11.
  • Shashi V, Pena LDM, Kim K, et al. De Novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype. Am J Hum Genet. 2017 Jan 5;100(1):179.
  • Bruel AL, Bigoni S, Kennedy J, et al. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. J Med Genet. 2017 Dec;54(12):830–835.
  • Georgiev H, Ravens I, Papadogianni G, et al. Coming of age: CD96 emerges as modulator of immune responses. Front Immunol. 2018;9:1072.
  • Darlow JM, McKay L, Dobson MG, et al. On the origins of renal cell carcinoma, vesicoureteric reflux and C (Opitz trigonocephaly) syndrome: A complex puzzle revealed by the sequencing of an inherited t(2;3) translocation. Eur J Hum Genet. 2013 June;21(Suppl.2. (Abstract)):145.
  • Chan CJ, Martinet L, Gilfillan S, et al. The receptors CD96 and CD226 oppose each other in the regulation of natural killer cell functions. Nat Immunol. 2014 May;15(5):431–438.
  • Schaaf CP, Gonzalez-Garay ML, Xia F, et al. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013 Nov;45(11):1405–1408.
  • Mejlachowicz D, Nolent F, Maluenda J, et al. Truncating mutations of MAGEL2, a gene within the Prader-Willi Locus, are responsible for severe arthrogryposis. Am J Hum Genet. 2015 Oct 1;97(4):616–620.
  • Jobling R, Stavropoulos DJ, Marshall CR, et al. Chitayat-Hall and Schaaf-Yang syndromes: acommon aetiology: expanding the phenotype of MAGEL2-related disorders. J Med Genet. 2018 May;55(5):316–321.
  • Toriello HV, Colley C, Bamshad M. Update on the Toriello-Carey syndrome. Am J Med Genet A. 2016 Oct;170(10):2551–2558.
  • McCarthy JM, McCann-Crosby BM, Rech ME, et al. Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. J Med Genet. 2018 May;55(5):307–315.
  • Kim Y, Lee HM, Xiong Y, et al. Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader-Willi syndrome. Nat Med. 2017 Feb;23(2):213–222.
  • Bellacosa A. Developmental disease and cancer: biological and clinical overlaps. Am J Med Genet A. 2013 Nov;161A(11):2788–2796.
  • Daou S, Barbour H, Ahmed O, et al. Monoubiquitination of ASXLs controls the deubiquitinase activity of the tumor suppressor BAP1. Nat Commun. 2018 Oct 22;9(1):4385.
  • De Silva P, Garaud S, Solinas C, et al. FOXP1 negatively regulates tumor infiltrating lymphocyte migration in human breast cancer. EBioMedicine. 2019;39:226–238.
  • Kurthy M, Mogyorosi T, Nagy K, et al. Effect of BRX-220 against peripheral neuropathy and insulin resistance in diabetic rat models. Ann N Y Acad Sci. 2002;967:482–489.
  • Kirkegaard T, Gray J, Priestman DA, et al. Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses. Sci Transl Med. 2016 Sep 7;8(355):355ra118.
  • Fog CK, Zago P, Malini E, et al. The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase. EBioMedicine. 2018;38:142–153.

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