Autism LOD on chromosome 7 increased by subset analysis of language

S. Folstein, S. Santangelo

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Abstract

In the CLSA genome screen of 75 families ascertained through two autistic siblings, our maximum 2 point heterogeneity LOD for chromosome 7q31-33 was 1.13 at D7S1813, 103.6cM. A second smaller signal was seen distally at GATA32C12, 150cM near CFTR. Signals in this area have been found for autism by several groups. Two separate studies of families with developmental language disorders have also reported linkage or association with the CFTR locus. Delayed development of speech and language is a frequent, although not universal, finding in autism. We therefore subset our 75 families into two groups: 50 families where both probands had onset of phrase speech after 3 years, and 25 families where one or both probands had normal onset of speech. We additionally coded any parent as affected who reported either delayed onset of speech, trouble learning to read, or persistent spelling difficulties. Other parents were called unknown. The 2 point heterogeneity LOD for the 50 language-abnormal families was 2.77 at D7S1813, and the LOD at this marker for the 25 language-normal families was 0.00. Our findings suggest the hypothesis that autism and developmental language disorder, both thought to be oligogenic, may have at least one gene in common.

Original languageEnglish
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume96
Issue number4
StatePublished - Aug 7 2000

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

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