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CASE REPORT

GAPO syndrome: a novel variant in ANTXR1 gene

Manikanta Damagatlaa VST Centre for Glaucoma Services, LV Prasad Eye Institute, Hyderabad, IndiaORCID Iconhttps://orcid.org/0009-0001-5128-1813View further author information
ORCID Icon,
Anshuman Vermab Institute of Rare Eye Diseases and Ocular Genetics, LV Prasad Eye Institute, Hyderabad, IndiaORCID Iconhttps://orcid.org/0000-0003-0948-0154View further author information
ORCID Icon,
Venkatesh Pochaboinab Institute of Rare Eye Diseases and Ocular Genetics, LV Prasad Eye Institute, Hyderabad, IndiaView further author information
,
Manju Bhatec Strabismus, Paediatric and Neuro-Ophthalmology Services (MB), Jasti V Ramanamma Children’s Eye Care Center, LV Prasad Eye Institute, Hyderabad, IndiaORCID Iconhttps://orcid.org/0000-0002-3826-3506View further author information
ORCID Icon &
Sirisha Senthila VST Centre for Glaucoma Services, LV Prasad Eye Institute, Hyderabad, IndiaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-1748-8850View further author information
ORCID Icon
Received 04 Nov 2023, Accepted 16 Apr 2024, Published online: 01 May 2024

References

  • Tipton RE, Gorlin RJ. Growth retardation, alopecia, pseudo-anodontia, and optic atrophy–the GAPO syndrome: report of a patient and review of the literature. Am J Med Genet. 1984 Oct;19(2):209–16. doi:10.1002/ajmg.1320190202.
  • RFS. A case of pseudoanodontia in connection with cranial deformity, nanosomia, and extodermal dysplasia. Oral Surg Oral Med Oral Pathol. 1948 Apr;1(4):411. doi:10.1016/0030-4220(48)90279-5.
  • Falcone MM, Chang YH, Lidov H, Stagner AM, Dagi LR. Two siblings with GAPO syndrome: ophthalmic presentation and histopathologic findings. Ophthalmic Genet. 2023 Dec;44(6):598–601. doi:10.1080/13816810.2023.2175225.
  • Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, et al. Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet. 2013 May 2;92(5):792–9. doi:10.1016/j.ajhg.2013.03.023.
  • Fu S, Tong X, Cai C, Zhao Y, Wu Y, Li Y, Xu J, Zhang XC, Xu L, Chen W, et al. The structure of tumor endothelial marker 8 (TEM8) extracellular domain and implications for its receptor function for recognizing anthrax toxin. PLOS ONE. 2010 Jun 18;5(6):e11203. doi:10.1371/journal.pone.0011203.
  • Bacon W, Hall RK, Roset JP, Boukari A, Tenenbaum H, Walter B. GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis. J Craniofac Genet Dev Biol. 1999;19(4):189–200.
  • Wajntal A, Koiffmann CP, Mendonça BB, Epps-Quaglia D, Sotto MN, Rati PB, Opitz JM. GAPO syndrome (McKusick 23074)—a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older. Am J Med Genet. 1990 Oct;37(2):213–23. doi:10.1002/ajmg.1320370210.
  • Rim PHH, Marques-de-Faria AP. Ophthalmic aspects of GAPO syndrome: case report and review. Ophthalmic Genet. 2005 Sep;26(3):143–7. doi:10.1080/13816810500229058.
  • Webb B, Sali A. Comparative protein structure modeling using modeller. Curr Protoc Bioinformatics. 2016 Jun 20;54(1):5.6.1–5.6.37. doi:10.1002/cpbi.3.
  • Goyal N, Gurjar H, Sharma BS, Tripathi M, Chandra PS. GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension. BMJ Case Rep. 2014 Jan 28;2014:bcr2013201727. doi:10.1136/bcr-2013-201727.
  • Ilker SS, Oztürk F, Kurt E, Temel M, Gül D, Sayli BS. Ophthalmic findings in GAPO syndrome. Jpn J Ophthalmol. 1999;43(1):48–52. doi:10.1016/S0021-5155(98)00058-6.
  • Chaurasia S, Ramappa M, Annapurna M, Kannabiran C Coexistence of congenital hereditary endothelial dystrophy and fuchs endothelial corneal dystrophy associated with SLC4A11 mutations in affected families. Cornea. 2020 Mar;39(3):354–7.
  • Besschetnova TY, Ichimura T, Katebi N, St Croix B, Bonventre JV, Olsen BR. Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis. Matrix Biol. 2015 Mar;42:56–73. doi:10.1016/j.matbio.2014.12.002.
  • Hu K, Olsen BR, Besschetnova TY. Cell autonomous ANTXR1-mediated regulation of extracellular matrix components in primary fibroblasts. Matrix Biol. 2017 Oct;62:105–14. doi:10.1016/j.matbio.2016.12.002.
  • Olsen BR, Berendsen AD, Besschetnova TY, Duan X, Hu K. Fell-Muir Lecture: regulatory mechanisms of skeletal and connective tissue development and homeostasis–lessons from studies of human disorders. Int J Exp Pathol. 2016 Aug;97(4):296–302. doi:10.1111/iep.12198.

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