Table 1.

mRNA transcript analysis of cDNA from the family-B propositus

Allele	mRNA transcript		Expected protein
	Size (bp)	Mutation
r.279delT
1	499	r279delt	Premature stop
r.416–1g→a
2	500	Normal splice (no mutation)	Wild-type pendrin
3	499	Abnormal splice, 416_417del	Premature stop
4	420	Abnormal splice, 416_495del	Premature stop
5	417	Abnormal splice, 416_498del	Premature stop