ADNP Syndrome

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Yang, C. ADNP Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4283 (accessed on 16 September 2026).

Yang C. ADNP Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4283. Accessed September 16, 2026.

Yang, Catherine. "ADNP Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4283 (accessed September 16, 2026).

Yang, C. (2020, December 23). ADNP Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4283

Yang, Catherine. "ADNP Syndrome." Encyclopedia. Web. 23 December, 2020.

ADNP Syndrome

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

ADNP syndrome is a condition that causes a wide variety of signs and symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, which is characterized by impaired communication and social interaction. Affected individuals also have distinctive facial features and abnormalities of multiple body systems.

genetic conditions

References

Gozes I, Van Dijck A, Hacohen-Kleiman G, Grigg I, Karmon G, Giladi E, Eger M, Gabet Y, Pasmanik-Chor M, Cappuyns E, Elpeleg O, Kooy RF, Bedrosian-Sermone S.Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutatedchildren. Transl Psychiatry. 2017 Feb 21;7(2):e1043. doi: 10.1038/tp.2017.27.Erratum in: Transl Psychiatry. 2017 Jul 4;7(7):e1166.
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van denEnde J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG,Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M,Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. ASWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet.2014 Apr;46(4):380-4. doi: 10.1038/ng.2899.
Krajewska-Walasek M, Jurkiewicz D, Piekutowska-Abramczuk D, Kucharczyk M,Chrzanowska KH, Jezela-Stanek A, Ciara E. Additional data on the clinicalphenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncatingmutation in ADNP gene. Am J Med Genet A. 2016 Jun;170(6):1647-50. doi:10.1002/ajmg.a.37641.
Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM. Expansion of theclinical phenotype associated with mutations in activity-dependentneuroprotective protein. J Med Genet. 2014 Sep;51(9):587-9. doi:10.1136/jmedgenet-2014-102444.
Van Dijck A, Helsmoortel C, Vandeweyer G, Kooy F. ADNP-Related IntellectualDisability and Autism Spectrum Disorder. 2016 Apr 7. In: Adam MP, Ardinger HH,Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK355518/
Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP,Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A,Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Vander Aa N, Kooy RF. The transcriptional regulator ADNP links the BAF (SWI/SNF)complexes with autism. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):315-26.doi: 10.1002/ajmg.c.31413.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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