Walsh et al. (2002) studied a family that traced its ancestry to the Jewish community of Mosul, Iraq. This community dated to 586 B.C. and was highly endogamous, with considerable emigration but little immigration, for more than 2,500 ... Walsh et al. (2002) studied a family that traced its ancestry to the Jewish community of Mosul, Iraq. This community dated to 586 B.C. and was highly endogamous, with considerable emigration but little immigration, for more than 2,500 years. Most remaining Jewish residents of Mosul, including this family, migrated to Israel in 1950-1951. Three generations of the family had experienced bilateral progressive hearing loss, which first affected the high frequencies. Hearing loss began in the second decade, and by age 50, was severe in high and middle frequencies and moderate at low frequencies. Vision and balance of all affected individuals were normal. Inheritance of deafness in this family was likely recessive with age-dependent penetrance, although dominant inheritance could not be excluded.
Three mutations in MYO3A fully explained the hearing loss in the family described by Walsh et al. (2002), in that there was complete concordance of MYO3A genotypes and hearing loss. All homozygotes and compound heterozygotes were deaf; all ... Three mutations in MYO3A fully explained the hearing loss in the family described by Walsh et al. (2002), in that there was complete concordance of MYO3A genotypes and hearing loss. All homozygotes and compound heterozygotes were deaf; all simple heterozygotes were carriers with normal hearing. Variability in age of onset of hearing loss could be explained. Between age 25 and 50 years, hearing across all frequencies was significantly poorer among individuals homozygous for the nonsense mutation than among individuals heterozygous for the nonsense mutation in combination with either of the splice mutations. Hearing loss was equally severe in all affected individuals by the sixth decade.