HPC-1/syntaxin 1A is a membrane protein that plays an important role in exocytosis of neurotransmitters from neuronal cells. We previously mapped the human HPC-1/syntaxin 1A gene (STX1A) to chromosome 7q11.2, which is within the Williams syndrome (WS) region. Here, we performed FISH analysis on 46 patients with WS to examine the relationship between STX1A and WS. Our results showed a hemizygous deletion of the HPC-1/syntaxin 1A gene in each patient, suggesting that the neurological symptoms of WS may be related to the hemizygous deletion of STX1A.

1.
Barnstable CJ, Hofstein R, Akagawa K: A marker of early amacrine cell development in rat retina. Brain Res 352:286–290 (1985).
2.
Bellugi U, Bihrle A, Jernigan T, Trauner D, Doherty S: Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome. Am J med Genet Suppl 6:115–125 (1990).
3.
Bennett MK, Garcia AJ, Elferink LA, Peterson K, Fleming AM, Hazuka CD, Scheller RH: The syntaxin family of vesicular transport receptors. Cell 74:863–873 (1993).
4.
Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet 5:11–16 (1993).
5.
Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, Klein BP, Ensing GJ, Everett LA, Green ED, Proschel C, Gutowski NJ, Noble M, Atkinson DL, Odelberg SJ, Keating MT: LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 86:59–69 (1996).
6.
Gosch A, Pankau R: Social-emotional and behavioral adjustment in children with Williams-Beuren syndrome. Am J med Genet 53:335–339 (1994).
7.
Hess EJ, Collins KA, Wilson MC: Mouse model of hyperkinesis implicates SNAP-25 in behavioral regulation. J Neurosci 16:3104–3111 (1996).
8.
Hirota H, Matsuoka R, Kimura M, Imamura S, Joh-o K, Ando M, Takao A, Momma K: Molecular cytogenetic diagnosis of Williams syndrome. Am J med Genet 64:473–477 (1996).
9.
Inoue A, Obata K, Akagawa K: Cloning and sequence analysis of cDNA for a neuronal cell membrane antigen, HPC-1. J biol Chem 267:10613–10619 (1992).
10.
Koh S, Yamamoto A, Inoue A, Inoue Y, Akagawa K, Kawamura Y, Kawamoto K, Tashiro Y: Immunoelectron microscopic localization of the HPC-1 antigen in rat cerebellum. J Neurocytol 22:995–1005 (1993).
11.
Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT: Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum molec Genet 6:1021–1028 (1997).
12.
Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL: Natural history of Williams syndrome: physical characteristics. J Pediatr 113:318-326 (1988).
13.
Nakayama T, Fujiwara T, Miyazawa A, Asakawa S, Shimizu N, Shimizu Y, Mikoshiba K, Akagawa K: Mapping of the human HPC-1/syntaxin 1A gene (STX1A) to chromosome 7 band q11.2. Genomics 42:173–176 (1997).
14.
Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HHQ, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC: Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics 36:328–336 (1996).
15.
Osborne LR, Soder S, Shi XM, Pober B, Costa T, Scherer SW, Tsui LC: Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome [letter]. Am J hum Genet 61:449–452 (1997).
16.
Peoples R, Perez Jurado L, Wang YK, Kaplan P, Francke U: The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion [letter]. Am J hum Genet 58:1370–1373 (1996).
17.
Preus M: The Williams syndrome: objective definition and diagnosis. Clin Genet 25:422–428 (1984).
18.
Raber J, Mehta PP, Kreifeldt M, Parsons LH, Weiss F, Bloom FE, Wilson MC: Coloboma hyperactive mutant mice exhibit regional and transmitter-specific deficits in neurotransmission. J Neurochem 68:176–186 (1997).
19.
Rothman JE: Mechanisms of intracellular protein transport. Nature 372:55–63 (1994).
20.
Wang KY, Samos HC, Peoples R, Perez-Jurado AL, Nusse R, Francke U: A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Hum molec Genet 6:465–472 (1997).
21.
Yamaguchi K, Nakayama T, Fujiwara T, Akagawa K: Enhancement of neurite-sprouting by suppression of HPC-1/syntaxin 1A activity in cultured vertebrate nerve cells. Brain Res 740:185–192 (1996).
1998
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.