“…It has been estimated that up to 15% of all diseasecausing point mutations result in defective splicing [Krawczak et al, 1992]. Although deafness-causing splice site mutations have been identified, only 10 of those reported affect the 3 0 acceptor splice site, making defects in this element of the splicing mechanism rare [Attaie et al, 1997;Coucke et al, 1999;Verpy et al, 2000;Yasunaga et al, 2000;Hertz et al, 2001;Scott et al, 2001;Maubaret et al, 2005]. Of the 10 reported mutations, only one was shown to alter splicing by introduction of a cryptic site distinct from the normal 3 0 splice site [Scott et al, 2001].…”