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Xu, R. PACS1 Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4858 (accessed on 26 September 2026).
Xu R. PACS1 Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4858. Accessed September 26, 2026.
Xu, Rita. "PACS1 Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4858 (accessed September 26, 2026).
Xu, R. (2020, December 24). PACS1 Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4858
Xu, Rita. "PACS1 Syndrome." Encyclopedia. Web. 24 December, 2020.
PACS1 Syndrome
Edit

PACS1 syndrome is a condition in which all affected individuals have intellectual disability, speech and language problems, and a distinct facial appearance. Many affected individuals have additional neurological, behavioral, and health problems.

genetic conditions

References

  1. Dutta AK. Schuurs-Hoeijmakers syndrome in a patient from India. Am J Med GenetA. 2019 Apr;179(4):522-524. doi: 10.1002/ajmg.a.61058.
  2. 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 PACS1causing intellectual disability. Clin Genet. 2015 Sep;88(3):300-2. doi:10.1111/cge.12544.
  3. 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 twopatients from Japan. Am J Med Genet A. 2019 Mar;179(3):341-343. doi:10.1002/ajmg.a.9.
  4. Lusk L, Smith S, Martin C, Taylor C, Chung W. PACS1 NeurodevelopmentalDisorder. 2020 Jul 16. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK559434/
  5. 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 ofPACS1: the milder end of the spectrum. Clin Dysmorphol. 2018 Oct;27(4):148-150.doi: 10.1097/MCD.0000000000000237.
  6. 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 missensemutation affecting the same amino acid as the recurrent PACS1 mutation inSchuurs-Hoeijmakers syndrome. Clin Genet. 2018 Apr;93(4):929-930. doi:10.1111/cge.13105.
  7. 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.
  8. 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; DDDstudy. 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.
  9. 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 PACS1cause defective cranial-neural-crest migration and define a recognizableintellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):1122-7. doi:10.1016/j.ajhg.2012.10.013.
  10. 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 ofintellectual disability and seizures. Clin Genet. 2017 Aug;92(2):221-223. doi:10.1111/cge.12956.
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Update Date: 24 Dec 2020
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