Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.

Only six families were studied, and suggestive linkage appeared in three families but not in the other three. The authors state the findings are not definitive and need further study. The Family 300 linkage region was large, which the authors say could reflect small family size. Family members were not screened for cognitive impairment, developmental delay, or autism, and one sibling with autism was included. A rare syndromic condition was later identified in a Branch 2 member of Family 315, but that member was not included in the analysis, and the authors note this may affect interpretation. Affected status depended on standardized language scores, so the genetic result is tied to that phenotype definition.

Funding came from the National Institute on Deafness and Other Communication Disorders and from start-up and research funds at KU. The funding statement says the funders had no role in study design, data collection, analysis, interpretation, writing, or the decision to submit the article.

Do not read the reported chromosome regions as clinical tests, diagnoses, or treatment targets. The study found only suggestive linkage, not definitive gene effects, and the authors say further family-based studies are needed.