A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32

被引:93
作者
Kaminen, N
Hannula-Jouppi, K
Kestilä, M
Lahermo, P
Muller, K
Kaaranen, M
Myllyluoma, B
Voutilainen, A
Lyytinen, H
Nopola-Hemmi, J
Kere, J [1 ]
机构
[1] Karolinska Inst, Novum, Dept Biosci, S-14157 Huddinge, Sweden
[2] Univ Helsinki, Dept Med Genet, Biomedicum, FIN-00014 Helsinki, Finland
[3] Natl Publ Hlth Inst, Biomedicum, Dept Mol Med, Helsinki, Finland
[4] Univ Helsinki, Finnish Genome Ctr, FIN-00014 Helsinki, Finland
[5] Univ Jyvaskyla, Dept Psychol, SF-40351 Jyvaskyla, Finland
[6] Univ Jyvaskyla, Child Res Ctr, SF-40351 Jyvaskyla, Finland
[7] Univ Helsinki, Hosp Children & Adolescents, Dept Paediat Neurol, FIN-00014 Helsinki, Finland
[8] Jorvi Hosp, Dept Paediat, SF-02740 Espoo, Finland
[9] Karolinska Inst, Novum, Clin Res Ctr, S-14157 Huddinge, Sweden
关键词
D O I
10.1136/jmg.40.5.340
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Developmental dyslexia is a distinct learning disability with unexpected difficulty in learning to read despite adequate intelligence, education, and environment, and normal senses. The genetic aetiology of dyslexia is heterogeneous and loci on chromosomes 2, 3, 6, 15, and 18 have been repeatedly linked to it. We have conducted a genome scan with 376 markers in 11 families with 38 dyslexic subjects ascertained in Finland. Linkage of dyslexia to the vicinity of DYX3 on 2p was confirmed with a nonparametric linkage (NPL) score of 2.55 and a lod score of 3.01 for a dominant model, and a novel locus on 7q32 close to the SPCH1 locus was suggested with an NPL score of 2.77. The SPCH1 locus has previously been linked with a severe speech and language disorder and autism, and a mutation in exon 14 of the FOXP2 gene on 7q32 has been identified in one large pedigree. Because the language disorder associated with the SPCH1 locus has some overlap with the language deficits observed in dyslexia, we sequenced the coding region of FOXP2 as a candidate gene for our observed linkage in six dyslexic subjects. No mutations were identified. We conclude that DYX3 appears to be important for dyslexia susceptibility in many Finnish families, and a suggested linkage of dyslexia to chromosome 7q32 will need verification in other data sets.
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页码:340 / 345
页数:6
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