DDX3X syndrome

DDX3X syndrome is a genetic disorder that affects predominantly females. Patients with DDX3X syndrome may develop developmental delay or intellectual disability, autism, ADHD, and low muscle tone. The syndrome develops due to mutations of the DDX3X gene located on the X chromosome, and the clinical picture varies depending on the specific mutation.

History

The syndrome was first described in a study published in 2015.[1]

Prevalence

According to studies performed up to 2022, DDX3X syndrome was presumed to account for 1-3% of cases of unexplained developmental delay and/or intellectual disability in females,[2] but this may be an approximate early estimate.

Alternative names
  • X-linked mental retardation 102

Figures
Facial features of children with DDX3X syndrome, from Tang et al., 2021.[2]

References
  1. Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T (August 2015). "Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling". American Journal of Human Genetics. 97 (2): 343–52. doi:10.1016/j.ajhg.2015.07.004. PMC 4573244. PMID 26235985.
  2. Tang L, Levy T, Guillory S, Halpern D, Zweifach J, Giserman-Kiss I, Foss-Feig JH, Frank Y, Lozano R, Belani P, Layton C, Lerman B, Frowner E, Breen MS, De Rubeis S, Kostic A, Kolevzon A, Buxbaum JD, Siper PM, Grice DE (May 2021). "Prospective and detailed behavioral phenotyping in DDX3X syndrome". Molecular Autism. 12 (1): 36. doi:10.1186/s13229-021-00431-z. PMC 8127248. PMID 33993884.


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