For Medical Professionals

Research: KPTN mutation(s) linked to macrocephaly, delay, and seizures: 

  • [Ohio USA] Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH. Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. Am J Hum Genet. 2014 Jan 2;94(1):87-94. doi: 10.1016/j.ajhg.2013.10.001. Epub 2013 Nov 14. PMID: 24239382; PMCID: PMC3882725. 
  • [Estonia] Pajusalu S, Reimand T, Õunap K. Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome. Am J Med Genet A. 2015 Aug;167A(8):1913-5. doi: 10.1002/ajmg.a.37105. Epub 2015 Apr 5. PMID: 25847626. 
  • [Kansas City USA] Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders C. Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a003970. doi: 10.1101/mcs.a003970. PMID: 32358097; PMCID: PMC7304362. 
  • [Brazil] Lucena PH, Armani-Franceschi G, Bispo-Torres AC, Bandeira ID, Lucena MFG, Maldonado I, Veiga MF, Miguel D, Lucena R. KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report. Am J Med Genet A. 2020 Apr;182(4):762-767. doi: 10.1002/ajmg.a.61492. Epub 2020 Jan 30. PMID: 31999056. 
  • [Spain] Pacio Miguez, M., Santos‐Simarro, F., García‐Miñaúr, S., Velázquez Fragua, R., Del Pozo, Á., Solís, M., Jiménez Rodríguez, C., Rufo‐Rabadán, V., Fernandez, V.E., Rueda, I. and Gomez del Pozo, M.V., 2020. Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. American Journal of Medical Genetics Part A182(10), pp.2222-2225.

Research: Overview of the mTOR pathway 

(See page 189 for a diagram including KICSTOR, and pages 195-196 for more information on mTOR in the brain and in neurodevelopmental disorders)

See also videos at the bottom of: 

The role of KICSTOR (which includes KPTN) in the mTOR process

  • Wolfson, R. L., Chantranupong, L., Wyant, G. A., Gu, X., Orozco, J. M., Shen, K., Condon, K. J., Petri, S., Kedir, J., Scaria, S. M., Abu-Remaileh, M., Frankel, W. N., & Sabatini, D. M. (2017). KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. Nature, 543(7645), 438–442.

KPTN Overview:

Unique Variants of KPTN:

Windows of Hope Project – (see “MASD Syndrome” on the alphabetical list)

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