Gene: [07q31/SPCH1] speech-language disorder 1;
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PAT |
In a large 3-generation English pedigree in which approximately half the members were affected with a severe speech and language disorder that appeared to be transmitted as an autosomal dominant monogenic trait. Although this family had been widely publicized as suffering from a selective defect in the generation of morphosyntactic rules, thus supposedly supporting the existence of genes specific to grammar, the phenotype was, in fact, much broader in nature, affecting virtually every aspect of grammar and of language generally. Affected members had a severe orofacial dyspraxia that rendered their speech largely incomprehensible to the naive listener (Fisher-1997)." |
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COM |
By a genomewide linkage search, Fisher et al. identified a region on chromosome 7 that cosegregated with the speech and language disorder (maximum lod score = 6.62), confirming autosomal dominant inheritance with full penetrance. Fine mapping with all available microsatellites from the region enabled them to localize the gene (designated SPCH1) to a 5.6-cM interval in 7q31 (Fisher-1997)." |
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REF |
PAT,LOC,LIN "Fisher SE &: AJHG, 61, (Suppl), A28, 1997 |
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KEY |
neu |
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CLA |
unknown, basic |
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LOC |
07 q31 |
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MIM |
MIM: 602081 |
