Multi-level evidence of an allelic hierarchy of USH2A variants in hearing auditory processing and speech/language outcomes

摘要

Individuals affected by APD are coloured in black. Unaffected individuals are shown in white. Line through symbol indicates that individual is deceased. All descendants of individual I.1 were affected by a severe expressive language disorder. The only unaffected individuals in the family were incoming Founder members (I.2, II.2, II.3, III.4). Chromatograms show validation of variant in wider family members. The variant (position indicated by a blue highlight bar) was observed in a heterozygous form in all affected individuals.