-
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Department of Pediatrics, Akita University School of Medicine, Japan.
We have investigated the myelin P0 gene on chromosome 1 as a candidate gene in two sporadic cases with Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. We found different mutations, a cysteine substitution for serine 63 in the extracellular domain and an arginine substitution for glycine 167 in the transmembrane domain. The patients were genetically heterozygous for the normal allele and the mutant allele, which was absent in their parents and in one hundred unrelated, healthy controls. The results strongly suggest that a de novo dominant mutation of the P0 gene is responsible for at least some sporadic cases of Dejerine-Sottas disease.
PMID: 7506095 [PubMed - indexed for MEDLINE]
-
Cited by 11 PubMed Central articles
-
Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice.
Pennuto M, Tinelli E, Malaguti M, Del Carro U, D'Antonio M, Ron D, Quattrini A, Feltri ML, Wrabetz L.
Neuron. 2008 Feb 7; 57(3):393-405.
[Neuron. 2008]
-
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.
Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR.
Am J Hum Genet. 2005 Nov; 77(5):841-50. Epub 2005 Sep 30.
[Am J Hum Genet. 2005]
-
Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.
Rünker AE, Kobsar I, Fink T, Loers G, Tilling T, Putthoff P, Wessig C, Martini R, Schachner M.
J Cell Biol. 2004 May 24; 165(4):565-73. Epub 2004 May 17.
[J Cell Biol. 2004]
- » See all...