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  • Title: The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2.
    Author: Kimura T, Arakawa Y, Inoue S, Fukushima Y, Kondo I, Koyama K, Hosoi T, Orimo A, Muramatsu M, Nakamura Y, Abe T, Inazawa J.
    Journal: Am J Med Genet; 1997 Mar 31; 69(3):320-4. PubMed ID: 9096764.
    Abstract:
    Smith-Magenis syndrome (SMS) is caused by a microdeletion of 17p11.2 and comprises developmental and growth delay, facial abnormalities, unusual behavior and sleep problems. This phenotype may be due to haploinsufficiency of several contiguous genes. The human brain finger protein gene (ZNF179), a member of the RING finger protein family, has been isolated and mapped to 17p11.2. FISH analyses of metaphase or interphase 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, using a prophase FISH ordering system, we sublocalized ZNF179 proximally to LLGL which lies on the critical region for SMS.
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