An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

Abdollahpour H, Alawi M, Kortüm F, Beckstette M, Seemanova E, Komárek V, Rosenberger G, Kutsche K (2015)
European Journal of Human Genetics 23(2): 256-259.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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Autor*in
Abdollahpour, Hengameh; Alawi, Malik; Kortüm, Fanny; Beckstette, MichaelUniBi; Seemanova, Eva; Komárek, Vladimír; Rosenberger, Georg; Kutsche, Kerstin
Abstract / Bemerkung
The recently proposed adaptor protein 4 (AP-4) deficiency syndrome comprises a group of congenital neurological disorders characterized by severe intellectual disability (ID), delayed or absent speech, hereditary spastic paraplegia, and growth retardation. AP-4 is a heterotetrameric protein complex with important functions in vesicle trafficking. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been reported in patients with the AP-4 deficiency phenotype. We describe two siblings from a non-consanguineous couple who presented with severe ID, absent speech, microcephaly, growth retardation, and progressive spastic tetraplegia. Whole-exome sequencing in the two patients identified the novel homozygous 2-bp deletion c.1160_1161delCA (p.(Thr387Argfs*30)) in AP4B1. Sanger sequencing confirmed the mutation in the siblings and revealed it in the heterozygous state in both parents. The AP4B1-associated phenotype has previously been assigned to spastic paraplegia-47. Identification of a novel AP4B1 alteration in two patients with clinical manifestations highly similar to other individuals with mutations affecting one of the four AP-4 subunits further supports the observation that loss of AP-4 assembly or functionality underlies the common clinical features in these patients and underscores the existence of the clinically recognizable AP-4 deficiency syndrome.
Erscheinungsjahr
2015
Zeitschriftentitel
European Journal of Human Genetics
Band
23
Ausgabe
2
Seite(n)
256-259
ISSN
1018-4813
eISSN
1476-5438
Page URI
https://pub.uni-bielefeld.de/record/2953304

Zitieren

Abdollahpour H, Alawi M, Kortüm F, et al. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. European Journal of Human Genetics. 2015;23(2):256-259.
Abdollahpour, H., Alawi, M., Kortüm, F., Beckstette, M., Seemanova, E., Komárek, V., Rosenberger, G., et al. (2015). An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. European Journal of Human Genetics, 23(2), 256-259. https://doi.org/10.1038/ejhg.2014.73
Abdollahpour, H., Alawi, M., Kortüm, F., Beckstette, M., Seemanova, E., Komárek, V., Rosenberger, G., and Kutsche, K. (2015). An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. European Journal of Human Genetics 23, 256-259.
Abdollahpour, H., et al., 2015. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. European Journal of Human Genetics, 23(2), p 256-259.
H. Abdollahpour, et al., “An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome”, European Journal of Human Genetics, vol. 23, 2015, pp. 256-259.
Abdollahpour, H., Alawi, M., Kortüm, F., Beckstette, M., Seemanova, E., Komárek, V., Rosenberger, G., Kutsche, K.: An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. European Journal of Human Genetics. 23, 256-259 (2015).
Abdollahpour, Hengameh, Alawi, Malik, Kortüm, Fanny, Beckstette, Michael, Seemanova, Eva, Komárek, Vladimír, Rosenberger, Georg, and Kutsche, Kerstin. “An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome”. European Journal of Human Genetics 23.2 (2015): 256-259.

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