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Charcot‐Marie‐Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene
Author(s) -
BlanquetGrossard Françoise,
PhamDinh Danielle,
Dautigny André,
Latour Philippe,
Bonnebouche Christine,
Corbillon Emmanuel,
Chazot Guy,
Vandenberghe Antoon
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04109.x
Subject(s) - point mutation , serine , genetics , exon , mutation , gene , phenotype , biology , peripheral myelin protein 22 , phosphorylation
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.