Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Rachel V. Baxter; Kamel Ben Othmane; Julie M. Rochelle; Jason E. Stajich; Christine Hulette; Susan Dew-Knight; Faycal Hentati; Mongi Ben Hamida; S. Bel; Judy E. Stenger; John R. Gilbert; Margaret A. Pericak-Vance; Jeffery M. Vance

doi:10.1038/ng796

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Rachel V. Baxter, Kamel Ben Othmane, Julie M. Rochelle, Jason E. Stajich, Christine Hulette, Susan Dew-Knight, Faycal Hentati, Mongi Ben Hamida, S. Bel, Judy E. Stenger, John R. Gilbert, Margaret A. Pericak-Vance, Jeffery M. Vance

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article

293 Scopus citations

Abstract

We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families - two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.

Original language	English (US)
Pages (from-to)	21-22
Number of pages	2
Journal	Nature genetics
Volume	30
Issue number	1
DOIs	https://doi.org/10.1038/ng796
State	Published - Jan 2002

ASJC Scopus subject areas

Genetics

Access to Document

10.1038/ng796

Fingerprint Dive into the research topics of 'Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21'. Together they form a unique fingerprint.

Cite this

Baxter, R. V., Othmane, K. B., Rochelle, J. M., Stajich, J. E., Hulette, C., Dew-Knight, S., Hentati, F., Hamida, M. B., Bel, S., Stenger, J. E., Gilbert, J. R., Pericak-Vance, M. A., & Vance, J. M. (2002). Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature genetics, 30(1), 21-22. https://doi.org/10.1038/ng796

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. / Baxter, Rachel V.; Othmane, Kamel Ben; Rochelle, Julie M.; Stajich, Jason E.; Hulette, Christine; Dew-Knight, Susan; Hentati, Faycal; Hamida, Mongi Ben; Bel, S.; Stenger, Judy E.; Gilbert, John R.; Pericak-Vance, Margaret A.; Vance, Jeffery M.

In: Nature genetics, Vol. 30, No. 1, 01.2002, p. 21-22.

Research output: Contribution to journal › Article

Baxter, Rachel V. ; Othmane, Kamel Ben ; Rochelle, Julie M. ; Stajich, Jason E. ; Hulette, Christine ; Dew-Knight, Susan ; Hentati, Faycal ; Hamida, Mongi Ben ; Bel, S. ; Stenger, Judy E. ; Gilbert, John R. ; Pericak-Vance, Margaret A. ; Vance, Jeffery M. / Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. In: Nature genetics. 2002 ; Vol. 30, No. 1. pp. 21-22.

@article{2c2fa477e69d43a695fd11fb7bf16d63,

title = "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21",

abstract = "We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families - two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.",

author = "Baxter, {Rachel V.} and Othmane, {Kamel Ben} and Rochelle, {Julie M.} and Stajich, {Jason E.} and Christine Hulette and Susan Dew-Knight and Faycal Hentati and Hamida, {Mongi Ben} and S. Bel and Stenger, {Judy E.} and Gilbert, {John R.} and Pericak-Vance, {Margaret A.} and Vance, {Jeffery M.}",

year = "2002",

month = jan,

doi = "10.1038/ng796",

language = "English (US)",

volume = "30",

pages = "21--22",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "1",

}

TY - JOUR

T1 - Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

AU - Baxter, Rachel V.

AU - Othmane, Kamel Ben

AU - Rochelle, Julie M.

AU - Stajich, Jason E.

AU - Hulette, Christine

AU - Dew-Knight, Susan

AU - Hentati, Faycal

AU - Hamida, Mongi Ben

AU - Bel, S.

AU - Stenger, Judy E.

AU - Gilbert, John R.

AU - Pericak-Vance, Margaret A.

AU - Vance, Jeffery M.

PY - 2002/1

Y1 - 2002/1

N2 - We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families - two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.

AB - We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families - two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.

UR - http://www.scopus.com/inward/record.url?scp=18544385024&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=18544385024&partnerID=8YFLogxK

U2 - 10.1038/ng796

DO - 10.1038/ng796

M3 - Article

C2 - 11743579

AN - SCOPUS:18544385024

VL - 30

SP - 21

EP - 22

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 1

ER -