Abstract:
:Specific language impairment (SLI) is defined as failure to acquire normal language skills despite adequate intelligence and environmental stimulation. Although SLI disorders are often heritable, the genetic basis is likely to involve a number of risk factors. This study describes a 7-year-old girl carrying an inherited paracentric inversion of the long arm of chromosome 3 [46XX, inv(3)(q25.32-q29)] having clinically defined expressive and receptive language delay. Fluorescence in situ hybridization (FISH) with locus-specific bacterial artificial chromosome clones (BACs) as probes was used to characterize the inverted chromosome 3. The proximal and distal inversion breakpoint was found to reside between markers D3S3692/D3S1553 and D3S3590/D3S2305, respectively. ATP13A4, a novel gene coding for a cation-transporting P-type ATPase, was found to be disrupted by the distal breakpoint. The ATP13A4 gene was shown to comprise a 3591-bp transcript encompassing 30 exons spanning 152 kb of the genomic DNA. This study discusses the characterization of ATP13A4 and its possible involvement in speech-language disorder.
journal_name
Genomicsjournal_title
Genomicsauthors
Kwasnicka-Crawford DA,Carson AR,Roberts W,Summers AM,Rehnström K,Järvelä I,Scherer SWdoi
10.1016/j.ygeno.2005.04.002subject
Has Abstractpub_date
2005-08-01 00:00:00pages
182-94issue
2eissn
0888-7543issn
1089-8646pii
S0888-7543(05)00094-7journal_volume
86pub_type
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