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Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
Joint Authors
Aftimos, Salim
George, Alice M.
Love, Donald R.
Ashton, Fern
al-Murrani, Amel
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-05-22
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
The contactin-associated protein-like 2 (CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain.
Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment.
Here we describe a 450 kb deletion within the CNTNAP2 gene that is maternally inherited in two male siblings, but with a variable clinical phenotype.
This variability is described in the context of a limited number of other cases reported in the literature.
The in-frame intragenic deletion removes a critical domain of the CNTNAP2 protein, and this case also highlights the challenges of correlating genotype and phenotype.
American Psychological Association (APA)
al-Murrani, Amel& Ashton, Fern& Aftimos, Salim& George, Alice M.& Love, Donald R.. 2012. Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay. Case Reports in Genetics،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-451653
Modern Language Association (MLA)
al-Murrani, Amel…[et al.]. Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay. Case Reports in Genetics No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-451653
American Medical Association (AMA)
al-Murrani, Amel& Ashton, Fern& Aftimos, Salim& George, Alice M.& Love, Donald R.. Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay. Case Reports in Genetics. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-451653
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-451653