Mutations in noncoding regions of
            GJB1
            are a major cause of X-linked CMT

Pedro J. Tomaselli; Alexander M. Rossor; Alejandro Horga; Zane Jaunmuktane; Aisling Carr; Paola Saveri; Giuseppe Piscosquito; Davide Pareyson; Matilde Laura; Julian C. Blake; Roy Poh; James Polke; Henry Houlden; Mary M. Reilly

doi:10.1212/wnl.0000000000003819

journal article Apr 11, 2017

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

Pedro J. Tomaselli Alexander M. Rossor

Alejandro Horga Zane Jaunmuktane

Aisling Carr Paola Saveri Giuseppe Piscosquito Davide Pareyson

Matilde Laura

Julian C. Blake Roy Poh James Polke Henry Houlden

Mary M. Reilly

Neurology Vol. 88 No. 15 pp. 1445-1453 · Ovid Technologies (Wolters Kluwer Health)

View at Publisher Save 10.1212/wnl.0000000000003819

Topics

No keywords indexed for this article. Browse by subject →

References

29

[1]

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Sinead M Murphy, Matilde Laura, Katherine Fawcett et al.

Journal of Neurology, Neurosurgery &amp; Psych... 10.1136/jnnp-2012-302451

[2]

10.1523/jneurosci.15-12-08281.1995

[3]

10.1083/jcb.142.4.1095

[4]

10.1016/s0167-4781(00)00036-1

[5]

10.1016/s0021-9258(18)47318-8

[6]

10.1007/bf01207338

[7]

10.1002/ana.20267

[8]

10.1042/bc20080104

[9]

10.1111/j.1529-8027.2011.00321.x

[10]

10.1038/nrneurol.2013.179

[11]

Human Genome Variation Society Database (HGVS). Available at: hgvs.org. Accessed May 15, 2016.

[12]

10.1212/wnl.47.2.541

[13]

10.1111/j.1529-8027.2009.00201.x

[14]

10.1016/j.jns.2013.06.011

[15]

10.18388/abp.2011_2247

[16]

UCSC Genome Browser. Available at: genome.ucsc.edu. Accessed May 15 2016.

[17]

NHLBI Exome Sequencing Project Database (EVS). Available at: evs.gs.washington.edu/EVS/. Accessed May 15, 2016.

[18]

Exome Aggregation Consortium Database (ExAC). Available at: exac.broadinstitute.org. Accessed May 15, 2016.

[19]

National Center for Biotechnology Information. Available at: ncbi.nlm.nih.gov/SNP. Accessed May 15, 2016.

[20]

1000 Genomes Project. Available at: 1000genomes.org. Accessed May 15 2016.

[21]

10.1111/j.1529-8027.2012.00424.x

[22]

10.1212/wnl.50.4.1074

[23]

10.1212/01.wnl.0000256709.08271.4d

[24]

10.1093/hmg/10.24.2783

[25]

10.1016/j.nmd.2005.09.008

[26]

10.1212/wnl.0b013e3182a9f56a

[27]

Flagiello L, Cirigliano V, Strazzullo M, et al. Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family: mutations in brief no. 195 [online]. Hum Mutat 1998;12:361.

[28]

10.1074/jbc.m005199200

[29]

10.1136/jmg.39.9.e58

Cited By

56

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Jamie M. Ellingford, Joo Wook Ahn · 2022

Genome Medicine

Metrics

56

Citations

29

References

Details

Published: Apr 11, 2017
Vol/Issue: 88(15)
Pages: 1445-1453

Authors

P

Pedro J. Tomaselli

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

A

Alexander M. Rossor

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

A

Alejandro Horga

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

Z

Zane Jaunmuktane

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

A

Aisling Carr

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

P

Paola Saveri

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

G

Giuseppe Piscosquito

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

D

Davide Pareyson

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

M

Matilde Laura

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

J

Julian C. Blake

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

R

Roy Poh

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

J

James Polke

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

H

Henry Houlden

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

M

Mary M. Reilly

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

Cite This Article

Pedro J. Tomaselli, Alexander M. Rossor, Alejandro Horga, et al. (2017). Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. Neurology, 88(15), 1445-1453. https://doi.org/10.1212/wnl.0000000000003819

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

You May Also Like