THE BRAIN FINGER PROTEIN GENE (ZNF179), A MEMBER OF THE RING FINGER FAMILY, MAPS WITHIN THE SMITH-MAGENIS SYNDROME REGION AT 17P11.2

Smith-Magenis syndrome (SMS) is caused by a microdeletion of 17p11.2 a nd comprises developmental and growth delay, facial abnormalities, unu sual behavior and sleep problems. This phenotype may be due to haploin sufficiency of several contiguous genes. The human brain finger protei n gene (ZNF179), a member of the RING finger protein family, has been isolated and mapped to 17p11.2. FISH analyses of metaphase or interpha se chromosomes of 6 patients with SMS show that ZNF179 was deleted in one of the 2 homologs (17p11.2), indicating a possible association of the defect of this gene with the pathogenesis of SMS. Furthermore, usi ng a prophase FISH ordering system, we sublocalized ZNF179 proximally to LLGL which lies on the critical region for SMS. (C) 1997 Wiley-Liss , Inc.