Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

摘要

Pedigrees and variants identified in known HI genes in Hungarian Roma families. Drawings of the 10 Roma pedigrees that are segregating variants in known HI genes. Circles indicate females and squares males. Filled symbols represent individuals with HI and clear symbols denote individuals who are unaffected. The genotypes fare indicated below every individual for which a DNA sample was available. An asterisk (*) indicates family members whose DNA samples underwent exome sequencing and a pound sign (#) denotes exome sequence data that were included in the MDS and ADMIXTURE analysis. The HI status and genotype for (I:1) in pedigree 6003 and (I:1) in 6008 are unknown