Miller-Dieker Syndrome

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Xu, R. Miller-Dieker Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4201 (accessed on 25 September 2026).

Xu R. Miller-Dieker Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4201. Accessed September 25, 2026.

Xu, Rita. "Miller-Dieker Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4201 (accessed September 25, 2026).

Xu, R. (2020, December 23). Miller-Dieker Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4201

Xu, Rita. "Miller-Dieker Syndrome." Encyclopedia. Web. 23 December, 2020.

Miller-Dieker Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/miller-dieker-syndrome

Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly.

genetic conditions

References

Allanson JE, Ledbetter DH, Dobyns WB. Classical lissencephaly syndromes: does the face reflect the brain? J Med Genet. 1998 Nov;35(11):920-3.
Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL,Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A,Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and otherphenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003Apr;72(4):918-30.
Dobyns WB, Curry CJ, Hoyme HE, Turlington L, Ledbetter DH. Clinical andmolecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet. 1991Mar;48(3):584-94.
Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ,Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-FenzyM, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH,Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in theMiller-Dieker syndrome region on chromosome 17p13.3 result in facialdysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009Dec;46(12):825-33. doi: 10.1136/jmg.2009.067637.
Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P. Neuronalmigration disorders: clinical, neuroradiologic and genetics aspects. ActaPaediatr. 2009 Mar;98(3):421-33. doi: 10.1111/j.1651-2227.2008.01160.x.
Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G. Lissencephalyassociated mutations suggest a requirement for the PAFAH1B heterotrimeric complexin brain development. Mech Dev. 2000 Apr;92(2):263-71.
Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A. 14-3-3epsilon isimportant for neuronal migration by binding to NUDEL: a molecular explanation forMiller-Dieker syndrome. Nat Genet. 2003 Jul;34(3):274-85.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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