Identification of an autosomal recessive stuttering locus on chromosome 3q13.2–3q13.33
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Stuttering is a common speech disorder with substantial genetic contributions. To better understand the genetic factors involved in stuttering, we performed a genome-wide linkage study in a newly-ascertained consanguineous stuttering family from Pakistan. A linkage scan in this family using parametric linkage analysis revealed significant linkage only on chromosome 3q13.2–3q13.33, with a maximum two-point LOD score of 4.23 under an autosomal recessive model of inheritance.
We thank Ms. Bushra Raza for assistance with stuttering diagnosis, and the research subjects for their generous cooperation with this study.