Neurofibromatosis gene NF2 on human chromosome 22 at q12.1

The NF2 genewas identified in 1993 by Rouleau
et al. and Trofatter et al. within a cosmid contig
contained in YAC clones (yeast artificial chromosomes).
Two deletions observed in unrelated
patients aided in finding the almost 100
kb gene with 17 exons. Mutations can be detected
in more than 50% of patients (large deletions
including the entire gene or several exons
and small deletions are frequent). The gene
product, called schwannomin, is related to a
family of cytoskeleton-membrane proteins
(erythrocyte protein 4.1, see p. 374, and the ERM
family ezrin, radixin, and moesin) and a family
of protein tyrosine phosphatases. The basic
function of these proteins is to maintain cellular
integrity.