A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI).

ABSTRACT: Language is a uniquely human ability, and failure to attain this ability can have a life-long impact on the affected individuals. This is particularly true for individuals with specific language impairment (SLI), which is defined as an impairment in normal language development in the absence of any other developmental disability. Although SLI displays high heritability, family-based linkage studies have been hampered by an unclear mode of Mendelian segregation, variable disease penetrance, and heterogeneity of diagnostic criteria. We performed genome-wide parametric linkage analysis and homozygosity mapping in 14 consanguineous families from Pakistan segregating SLI. Linkage analysis revealed a multipoint LOD score of 4.18 at chromosome 2q in family PKSLI05 under a recessive mode of inheri

SUBMITTER: Andres EM 

PROVIDER: S-EPMC6777459 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature