A major locus for myoclonus-dystonia maps to chromosome 7q in eight families

Christine Klein; Karla Schilling; Rachel J. Saunders-Pullman; Jennifer Garrels; Xandra O. Breakefield; Mitchell F. Brin; Deborah DeLeon; Dana Doheny; Stanley Fahn; J. Stephen Fink; Lars Forsgren; Jennifer Friedman; Steven Frucht; Juliette Harris; Gosta Holmgren; Bernhard Kis; Roger Kurlan; Martin Kyllerman; Anthony E. Lang; Joanne Leung; Deborah Raymond; Janet D. Robishaw; Gunnar Sanner; Eberhard Schwinger; Rowena E. Tabamo; Michele Tagliati; Peter Vieregge; Jan Wahlstrom; Kristin J. Wendt; Patricia L. Kramer; Susan B. Bressman; Laurie J. Ozelius

doi:10.1016/S0002-9297(07)62961-9

A major locus for myoclonus-dystonia maps to chromosome 7q in eight families

Christine Klein, Karla Schilling, Rachel J. Saunders-Pullman, Jennifer Garrels, Xandra O. Breakefield, Mitchell F. Brin, Deborah DeLeon, Dana Doheny, Stanley Fahn, J. Stephen Fink, Lars Forsgren, Jennifer Friedman, Steven Frucht, Juliette Harris, Gosta Holmgren, Bernhard Kis, Roger Kurlan, Martin Kyllerman, Anthony E. Lang, Joanne LeungDeborah Raymond, Janet D. Robishaw, Gunnar Sanner, Eberhard Schwinger, Rowena E. Tabamo, Michele Tagliati, Peter Vieregge, Jan Wahlstrom, Kristin J. Wendt, Patricia L. Kramer, Susan B. Bressman, Laurie J. Ozelius

Institut für Neurogenetik

50 Zitate (Scopus)

Abstract

Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported in another. We performed genetic studies, using eight additional families with M-D, to assess these two loci. No evidence for linkage was found for 11q markers. However, all eight of these families showed linkage to chromosome 7 markers, with a combined multipoint LOD score of 11.71. Recombination events in the families define the disease gene within a 14-cM interval flanked by D7S2212 and D7S821. These data provide evidence for a major locus for M-D on chromosome 7q21.

Originalsprache	Englisch
Zeitschrift	American Journal of Human Genetics
Jahrgang	67
Ausgabenummer	5
Seiten (von - bis)	1314-1319
Seitenumfang	6
ISSN	0002-9297
DOIs	https://doi.org/10.1016/S0002-9297(07)62961-9
Publikationsstatus	Veröffentlicht - 01.01.2000

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Klein, C., Schilling, K., Saunders-Pullman, R. J., Garrels, J., Breakefield, X. O., Brin, M. F., DeLeon, D., Doheny, D., Fahn, S., Fink, J. S., Forsgren, L., Friedman, J., Frucht, S., Harris, J., Holmgren, G., Kis, B., Kurlan, R., Kyllerman, M., Lang, A. E., ... Ozelius, L. J. (2000). A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. American Journal of Human Genetics, 67(5), 1314-1319. https://doi.org/10.1016/S0002-9297(07)62961-9

@article{b58e8d5c67d941ff969e24e9f059c8ee,

title = "A major locus for myoclonus-dystonia maps to chromosome 7q in eight families",

abstract = "Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported in another. We performed genetic studies, using eight additional families with M-D, to assess these two loci. No evidence for linkage was found for 11q markers. However, all eight of these families showed linkage to chromosome 7 markers, with a combined multipoint LOD score of 11.71. Recombination events in the families define the disease gene within a 14-cM interval flanked by D7S2212 and D7S821. These data provide evidence for a major locus for M-D on chromosome 7q21.",

author = "Christine Klein and Karla Schilling and Saunders-Pullman, {Rachel J.} and Jennifer Garrels and Breakefield, {Xandra O.} and Brin, {Mitchell F.} and Deborah DeLeon and Dana Doheny and Stanley Fahn and Fink, {J. Stephen} and Lars Forsgren and Jennifer Friedman and Steven Frucht and Juliette Harris and Gosta Holmgren and Bernhard Kis and Roger Kurlan and Martin Kyllerman and Lang, {Anthony E.} and Joanne Leung and Deborah Raymond and Robishaw, {Janet D.} and Gunnar Sanner and Eberhard Schwinger and Tabamo, {Rowena E.} and Michele Tagliati and Peter Vieregge and Jan Wahlstrom and Wendt, {Kristin J.} and Kramer, {Patricia L.} and Bressman, {Susan B.} and Ozelius, {Laurie J.}",

year = "2000",

month = jan,

day = "1",

doi = "10.1016/S0002-9297(07)62961-9",

language = "English",

volume = "67",

pages = "1314--1319",

journal = "American Journal of Human Genetics",

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Klein, C, Schilling, K, Saunders-Pullman, RJ, Garrels, J, Breakefield, XO, Brin, MF, DeLeon, D, Doheny, D, Fahn, S, Fink, JS, Forsgren, L, Friedman, J, Frucht, S, Harris, J, Holmgren, G, Kis, B, Kurlan, R, Kyllerman, M, Lang, AE, Leung, J, Raymond, D, Robishaw, JD, Sanner, G, Schwinger, E, Tabamo, RE, Tagliati, M, Vieregge, P, Wahlstrom, J, Wendt, KJ, Kramer, PL, Bressman, SB & Ozelius, LJ 2000, 'A major locus for myoclonus-dystonia maps to chromosome 7q in eight families', American Journal of Human Genetics, Jg. 67, Nr. 5, S. 1314-1319. https://doi.org/10.1016/S0002-9297(07)62961-9

TY - JOUR

T1 - A major locus for myoclonus-dystonia maps to chromosome 7q in eight families

AU - Klein, Christine

AU - Schilling, Karla

AU - Saunders-Pullman, Rachel J.

AU - Garrels, Jennifer

AU - Breakefield, Xandra O.

AU - Brin, Mitchell F.

AU - DeLeon, Deborah

AU - Doheny, Dana

AU - Fahn, Stanley

AU - Fink, J. Stephen

AU - Forsgren, Lars

AU - Friedman, Jennifer

AU - Frucht, Steven

AU - Harris, Juliette

AU - Holmgren, Gosta

AU - Kis, Bernhard

AU - Kurlan, Roger

AU - Kyllerman, Martin

AU - Lang, Anthony E.

AU - Leung, Joanne

AU - Raymond, Deborah

AU - Robishaw, Janet D.

AU - Sanner, Gunnar

AU - Schwinger, Eberhard

AU - Tabamo, Rowena E.

AU - Tagliati, Michele

AU - Vieregge, Peter

AU - Wahlstrom, Jan

AU - Wendt, Kristin J.

AU - Kramer, Patricia L.

AU - Bressman, Susan B.

AU - Ozelius, Laurie J.

PY - 2000/1/1

Y1 - 2000/1/1

N2 - Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported in another. We performed genetic studies, using eight additional families with M-D, to assess these two loci. No evidence for linkage was found for 11q markers. However, all eight of these families showed linkage to chromosome 7 markers, with a combined multipoint LOD score of 11.71. Recombination events in the families define the disease gene within a 14-cM interval flanked by D7S2212 and D7S821. These data provide evidence for a major locus for M-D on chromosome 7q21.

AB - Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported in another. We performed genetic studies, using eight additional families with M-D, to assess these two loci. No evidence for linkage was found for 11q markers. However, all eight of these families showed linkage to chromosome 7 markers, with a combined multipoint LOD score of 11.71. Recombination events in the families define the disease gene within a 14-cM interval flanked by D7S2212 and D7S821. These data provide evidence for a major locus for M-D on chromosome 7q21.

UR - http://www.scopus.com/inward/record.url?scp=0033754411&partnerID=8YFLogxK

U2 - 10.1016/S0002-9297(07)62961-9

DO - 10.1016/S0002-9297(07)62961-9

M3 - Journal articles

C2 - 11022010

AN - SCOPUS:0033754411

SN - 0002-9297

VL - 67

SP - 1314

EP - 1319

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

A major locus for myoclonus-dystonia maps to chromosome 7q in eight families

Abstract

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