Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies

C. Vaurs-Barriere, M. N. Bonnet-Dupeyron, P. Combes, F. Gauthier-Barichard, X. T. Reveles, R. Schiffmann, E. Bertini, D. Rodriguez, P. Vago, J. A L Armour, P. Saugier-Veber, T. Frebourg, Robin J Leach, Odile Boespflug-Tanguy

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Abstract

The inherited disorders of CNS myelin formation represent a heterogeneous group of leukodystrophies. The proteolipoprotein (PLP1) gene has been implicated in two X-linked forms, Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2, and the gap junction protein α12 (GJA12) gene in a recessive form of PMD. The myelin basic protein (MBP) gene, which encodes the second most abundant CNS myelin protein after PLP1, presents rearrangements in hypomyelinating murine mutants and is always included in the minimal region deleted in 18q- patients with an abnormal hypomyelination pattern on cerebral MRI. In this study, we looked at the genomic copy number at the Golli-MBP locus in 195 patients with cerebral MRI suggesting a myelin defect, who do not have PLP1 mutation. Although preliminary results obtained by FISH suggested the duplication of Golli-MBP in 3 out of 10 patients, no abnormal gene quantification was found using Quantitative Multiplex PCR of Short Fluorescent fragments (QMPSF), Multiplex Amplifiable Probe Hybridization (MAPH), or another FISH protocol using directly-labelled probes. Pitfalls and interest in these different techniques to detect duplication events are emphasised. Finally, the study of this large cohort of patients suggests that Golli-MBP deletion or duplication is rarely involved in inherited defects of myelin formation.

Original languageEnglish (US)
Pages (from-to)66-77
Number of pages12
JournalAnnals of Human Genetics
Volume70
Issue number1
DOIs
StatePublished - Jan 2006

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Myelin Basic Protein
Multiplex Polymerase Chain Reaction
Pelizaeus-Merzbacher Disease
Myelin Sheath
Genes
Hereditary Spastic Paraplegia
Myelin Proteins
Connexins
Cohort Studies
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Vaurs-Barriere, C., Bonnet-Dupeyron, M. N., Combes, P., Gauthier-Barichard, F., Reveles, X. T., Schiffmann, R., ... Boespflug-Tanguy, O. (2006). Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. Annals of Human Genetics, 70(1), 66-77. https://doi.org/10.1111/j.1529-8817.2005.00208.x

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. / Vaurs-Barriere, C.; Bonnet-Dupeyron, M. N.; Combes, P.; Gauthier-Barichard, F.; Reveles, X. T.; Schiffmann, R.; Bertini, E.; Rodriguez, D.; Vago, P.; Armour, J. A L; Saugier-Veber, P.; Frebourg, T.; Leach, Robin J; Boespflug-Tanguy, Odile.

In: Annals of Human Genetics, Vol. 70, No. 1, 01.2006, p. 66-77.

Research output: Contribution to journalArticle

Vaurs-Barriere, C, Bonnet-Dupeyron, MN, Combes, P, Gauthier-Barichard, F, Reveles, XT, Schiffmann, R, Bertini, E, Rodriguez, D, Vago, P, Armour, JAL, Saugier-Veber, P, Frebourg, T, Leach, RJ & Boespflug-Tanguy, O 2006, 'Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies', Annals of Human Genetics, vol. 70, no. 1, pp. 66-77. https://doi.org/10.1111/j.1529-8817.2005.00208.x
Vaurs-Barriere C, Bonnet-Dupeyron MN, Combes P, Gauthier-Barichard F, Reveles XT, Schiffmann R et al. Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. Annals of Human Genetics. 2006 Jan;70(1):66-77. https://doi.org/10.1111/j.1529-8817.2005.00208.x
Vaurs-Barriere, C. ; Bonnet-Dupeyron, M. N. ; Combes, P. ; Gauthier-Barichard, F. ; Reveles, X. T. ; Schiffmann, R. ; Bertini, E. ; Rodriguez, D. ; Vago, P. ; Armour, J. A L ; Saugier-Veber, P. ; Frebourg, T. ; Leach, Robin J ; Boespflug-Tanguy, Odile. / Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. In: Annals of Human Genetics. 2006 ; Vol. 70, No. 1. pp. 66-77.
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AU - Combes, P.

AU - Gauthier-Barichard, F.

AU - Reveles, X. T.

AU - Schiffmann, R.

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AU - Armour, J. A L

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