Consortium fine localization of X-Linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 Is the defect in CMTX1

Margaret A. Pericak-Vance; David F. Barker; Jo Ann Bergoffen; Phillip Chance; Susan Cochrane; Niklas Dahl; Mareike Christine Exler; Pamela R. Fain; Nicholas D. Fairweather; Kenneth Fischbeck; Andreas Gal; Neva Haites; R. Ionasescu; Victor V. Ionasescu; Marina L. Kennerson; Anthony P. Monaco; M. Mostaccuiolo; Garth A. Nicholson; Anna Sillén; Jonathan L. Haines

doi:10.1159/000154272

Consortium fine localization of X-Linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 Is the defect in CMTX1

Margaret A. Pericak-Vance^*, David F. Barker, Jo Ann Bergoffen, Phillip Chance, Susan Cochrane, Niklas Dahl, Mareike Christine Exler, Pamela R. Fain, Nicholas D. Fairweather, Kenneth Fischbeck, Andreas Gal, Neva Haites, R. Ionasescu, Victor V. Ionasescu, Marina L. Kennerson, Anthony P. Monaco, M. Mostaccuiolo, Garth A. Nicholson, Anna Sillén, Jonathan L. Haines

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

9 Citations (Scopus)

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin 32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.

Original language	English
Pages (from-to)	121-128
Number of pages	8
Journal	Human Heredity
Volume	45
Issue number	3
DOIs	https://doi.org/10.1159/000154272
Publication status	Published - 1995
Externally published	Yes

Keywords

Connexin32
Linkage
Neuropathy
X chromosome
X-linked charcot-marie-tooth disease

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10.1159/000154272

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Pericak-Vance, M. A., Barker, D. F., Bergoffen, J. A., Chance, P., Cochrane, S., Dahl, N., Exler, M. C., Fain, P. R., Fairweather, N. D., Fischbeck, K., Gal, A., Haites, N., Ionasescu, R., Ionasescu, V. V., Kennerson, M. L., Monaco, A. P., Mostaccuiolo, M., Nicholson, G. A., Sillén, A., & Haines, J. L. (1995). Consortium fine localization of X-Linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 Is the defect in CMTX1. Human Heredity, 45(3), 121-128. https://doi.org/10.1159/000154272

@article{3a3759a13d804a3ca58bc9e2e9a5538e,

title = "Consortium fine localization of X-Linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 Is the defect in CMTX1",

abstract = "Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin 32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.",

keywords = "Connexin32, Linkage, Neuropathy, X chromosome, X-linked charcot-marie-tooth disease",

author = "Pericak-Vance, {Margaret A.} and Barker, {David F.} and Bergoffen, {Jo Ann} and Phillip Chance and Susan Cochrane and Niklas Dahl and Exler, {Mareike Christine} and Fain, {Pamela R.} and Fairweather, {Nicholas D.} and Kenneth Fischbeck and Andreas Gal and Neva Haites and R. Ionasescu and Ionasescu, {Victor V.} and Kennerson, {Marina L.} and Monaco, {Anthony P.} and M. Mostaccuiolo and Nicholson, {Garth A.} and Anna Sill{\'e}n and Haines, {Jonathan L.}",

year = "1995",

doi = "10.1159/000154272",

language = "English",

volume = "45",

pages = "121--128",

journal = "Human Heredity",

issn = "0001-5652",

publisher = "S. Karger AG",

number = "3",

}

Pericak-Vance, MA, Barker, DF, Bergoffen, JA, Chance, P, Cochrane, S, Dahl, N, Exler, MC, Fain, PR, Fairweather, ND, Fischbeck, K, Gal, A, Haites, N, Ionasescu, R, Ionasescu, VV, Kennerson, ML, Monaco, AP, Mostaccuiolo, M, Nicholson, GA, Sillén, A & Haines, JL 1995, 'Consortium fine localization of X-Linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 Is the defect in CMTX1', Human Heredity, vol. 45, no. 3, pp. 121-128. https://doi.org/10.1159/000154272

TY - JOUR

T1 - Consortium fine localization of X-Linked Charcot-Marie-Tooth disease (CMTX1)

T2 - additional support that connexin32 Is the defect in CMTX1

AU - Pericak-Vance, Margaret A.

AU - Barker, David F.

AU - Bergoffen, Jo Ann

AU - Chance, Phillip

AU - Cochrane, Susan

AU - Dahl, Niklas

AU - Exler, Mareike Christine

AU - Fain, Pamela R.

AU - Fairweather, Nicholas D.

AU - Fischbeck, Kenneth

AU - Gal, Andreas

AU - Haites, Neva

AU - Ionasescu, R.

AU - Ionasescu, Victor V.

AU - Kennerson, Marina L.

AU - Monaco, Anthony P.

AU - Mostaccuiolo, M.

AU - Nicholson, Garth A.

AU - Sillén, Anna

AU - Haines, Jonathan L.

PY - 1995

Y1 - 1995

N2 - Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin 32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.

AB - Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin 32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.

KW - Connexin32

KW - Linkage

KW - Neuropathy

KW - X chromosome

KW - X-linked charcot-marie-tooth disease

UR - http://www.scopus.com/inward/record.url?scp=0029074978&partnerID=8YFLogxK

U2 - 10.1159/000154272

DO - 10.1159/000154272

M3 - Article

C2 - 7615296

AN - SCOPUS:0029074978

SN - 0001-5652

VL - 45

SP - 121

EP - 128

JO - Human Heredity

JF - Human Heredity

IS - 3

ER -

Consortium fine localization of X-Linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 Is the defect in CMTX1

Abstract

Keywords

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