Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
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ABSTRACT:
SUBMITTER: Al-Murrani A
PROVIDER: S-EPMC3447220 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Publications
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
Al-Murrani Amel A Ashton Fern F Aftimos Salim S George Alice M AM Love Donald R DR
Case reports in genetics 20120522
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 ...[more]
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