Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene |
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Authors: | Françoise Blanquet-Grossard Danielle Pham-Dinh ré Dautigny Philippe Latour Christine Bonnebouche Emmanuel Corbillon Guy Chazot Antoon Vandenberghe |
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Institution: | Laboratoire de Neurogénétique Moléculaire, URA 1488 CNRS, Universitéde Paris;Laboratoire de Neurogénétique, Hôpital de l'Antiquaille, Lyon;Service de Neurologie, CHRU d'Amiens, Amiens;Service de Neurologie, Hôpital Pierre Wertheimer;Facultéde Pharmacie, UniversitéClaude Bernard, Lyon, France |
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Abstract: | We report studies on two patients (a mother and her daughter) presenting with a Charcot-Marie-Tooth type 1 (CMT1) phenotype: low nerve conduction velocities of 13–15 m/s and an early onset at the age of walking. DNA analysis of the gene coding for the major peripheral myelin protein P0 showed a new point mutation in exon 2, which resulted in substitution of a phenylalanine for serine at amino acid position 63 of P0. This is the third mutation reported at this codon, the two previously described leading to CMT1B (serine 63 deletion), or to Dejerine-Sottas disease (cysteine for serine 63 substitution), suggesting that different phenotypes can result from alteration of a single amino acid, depending on the type of the change involved. |
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Keywords: | chromosome 1 CMT 1B myelin PO gene SSCP analysis |
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