Table 4

OTOF mutations found in NSRAN families

FamilyExonMutationConsequenceSegregatesR enzyme verificationControl chrom
1802161778delGFrameshiftYesBsaBI0/188
1802486141G>AArg>GlnMissenseYesSau96I0/188
172139IVS39+1 G>CSplice siteYesBslI0/188
2117486285C>GPro>ArgMissenseYesBtgI0/188