“…Several mutations of the ankyrin-1 gene (ANK1; MIM# 182900) have been described in the last few years (Jarolim P, et al 1995;Del Giudice EM, et al 1996;Eber SW, et al 1996;Gallagher PG & Forget BG. Dominant HS is primarily associated with null phenotypes caused by nonsense or frameshift mutations, whereas recessive HS might be caused by missense or promoter mutations (Del Giudice EM, et al 1996;Eber SW, et al 1996; Morle L, et al 1997;Randon J, et al 1997;Del Giudice EM, et al 1998;Hayette S, et al 1998;Yawata Y, et al 2000), even though most of these 'recessive ' HS are, probably, de novo mutations (Del Giudice EM, et al 1996;Eber SW, et al 1996;Morle L, et al 1997;Del Giudice EM, et al 1998) which have just occurred in the proband. Dominant HS is primarily associated with null phenotypes caused by nonsense or frameshift mutations, whereas recessive HS might be caused by missense or promoter mutations (Del Giudice EM, et al 1996;Eber SW, et al 1996; Morle L, et al 1997;Randon J, et al 1997;Del Giudice EM, et al 1998;Hayette S, et al 1998;Yawata Y, et al 2000), even though most of these 'recessive ' HS are, probably, de novo mutations (Del Giudice EM, et al 1996;Eber SW, et al 1996;Morle L, et al 1997;Del Giudice EM, et al 1998) which have just occurred in the proband.…”