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 › peer-review

299 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

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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 › peer-review

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.

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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.",

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