Genetics Home Reference: PACS1 syndrome

By | March 8, 2019
  • Dutta AK. Schuurs-Hoeijmakers syndrome in a patient from India. Am J Med Genet A. 2019 Jan 28. doi: 10.1002/ajmg.a.61058. [Epub ahead of print]

  • Gadzicki D, Döcker D, Schubach M, Menzel M, Schmorl B, Stellmer F, Biskup S, Bartholdi D. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. Clin Genet. 2015 Sep;88(3):300-2. doi: 10.1111/cge.12544. Epub 2014 Dec 18.

  • Hoshino Y, Enokizono T, Imagawa K, Tanaka R, Suzuki H, Fukushima H, Arai J, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Schuurs-Hoeijmakers syndrome in two patients from Japan. Am J Med Genet A. 2019 Mar;179(3):341-343. doi: 10.1002/ajmg.a.9. Epub 2018 Dec 27.

  • Martinez-Monseny A, Bolasell M, Arjona C, Martorell L, Yubero D, Arsmtrong J, Maynou J, Fernandez G, Del Carmen Salgado M, Palau F, Serrano M. Mutation of PACS1: the milder end of the spectrum. Clin Dysmorphol. 2018 Oct;27(4):148-150. doi: 10.1097/MCD.0000000000000237.

  • Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. Clin Genet. 2018 Apr;93(4):929-930. doi: 10.1111/cge.13105. Epub 2017 Oct 4.

  • Pefkianaki M, Schneider A, Capasso JE, Wasserman BN, Bardakjian T, Levin AV. Ocular manifestations of PACS1 mutation. J AAPOS. 2018 Aug;22(4):323-325. doi: 10.1016/j.jaapos.2017.12.008. Epub 2018 Mar 14.

  • Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study. Clinical delineation of the PACS1-related syndrome–Report on 19 patients. Am J Med Genet A. 2016 Mar;170(3):670-5. doi: 10.1002/ajmg.a.37476. Epub 2016 Feb 3.

  • Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):1122-7. doi: 10.1016/j.ajhg.2012.10.013. Epub 2012 Nov 15.

  • Stern D, Cho MT, Chikarmane R, Willaert R, Retterer K, Kendall F, Deardorff M, Hopkins S, Bedoukian E, Slavotinek A, Schrier Vergano S, Spangler B, McDonald M, McConkie-Rosell A, Burton BK, Kim KH, Oundjian N, Kronn D, Chandy N, Baskin B, Guillen Sacoto MJ, Wentzensen IM, McLaughlin HM, McKnight D, Chung WK. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Clin Genet. 2017 Aug;92(2):221-223. doi: 10.1111/cge.12956. Epub 2017 Jan 23.

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