Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

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 dele...

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Main Authors: Amel Al-Murrani, Fern Ashton, Salim Aftimos, Alice M. George, Donald R. Love
Format: Article
Language:English
Published: Hindawi Limited 2012-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2012/172408
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spelling doaj-d6bf083c28874434a262223cb318c9cd2020-11-24T23:05:13ZengHindawi LimitedCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/172408172408Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech DelayAmel Al-Murrani0Fern Ashton1Salim Aftimos2Alice M. George3Donald R. Love4Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandNorthern Regional Genetic Service, Auckland City Hospital, Private Bag 92024, Auckland 1142, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandThe 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.http://dx.doi.org/10.1155/2012/172408
collection DOAJ
language English
format Article
sources DOAJ
author Amel Al-Murrani
Fern Ashton
Salim Aftimos
Alice M. George
Donald R. Love
spellingShingle Amel Al-Murrani
Fern Ashton
Salim Aftimos
Alice M. George
Donald R. Love
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
Case Reports in Genetics
author_facet Amel Al-Murrani
Fern Ashton
Salim Aftimos
Alice M. George
Donald R. Love
author_sort Amel Al-Murrani
title Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
title_short Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
title_full Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
title_fullStr Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
title_full_unstemmed Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
title_sort amino-terminal microdeletion within the cntnap2 gene associated with variable expressivity of speech delay
publisher Hindawi Limited
series Case Reports in Genetics
issn 2090-6544
2090-6552
publishDate 2012-01-01
description 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.
url http://dx.doi.org/10.1155/2012/172408
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AT fernashton aminoterminalmicrodeletionwithinthecntnap2geneassociatedwithvariableexpressivityofspeechdelay
AT salimaftimos aminoterminalmicrodeletionwithinthecntnap2geneassociatedwithvariableexpressivityofspeechdelay
AT alicemgeorge aminoterminalmicrodeletionwithinthecntnap2geneassociatedwithvariableexpressivityofspeechdelay
AT donaldrlove aminoterminalmicrodeletionwithinthecntnap2geneassociatedwithvariableexpressivityofspeechdelay
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