Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

@article{Roa1993DejerineSottasSA,
  title={Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene},
  author={Benjamin B. Roa and Peter J. Dyck and Harold G. Marks and Phillip F. Chance and James R. Lupski},
  journal={Nature Genetics},
  year={1993},
  volume={5},
  pages={269-273}
}
Dejerine–Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Clinical symptoms are similar but more severe than Charcot–Marie–Tooth disease type 1 (CMT1), of which the major subtype, CMT1 A, results either from duplication of a 1.5–megabase DNA region in chromosome 17p11.2–p12 containing the myelin gene PMP22, or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated… Expand
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine‐Sottas disease
TLDR
These findings demonstrate the occurrence of recessive transmission of Dejerine‐Sottas disease in this setting, and report on a family with 3 affected children with this phenotype, born to clinically and electrophysiologically unaffected parents. Expand
Déjérine‐Sottas neuropathy is associated with a de novo PMP22 mutation
We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Déjérine‐Sottas neuropathy. Single‐stranded conformation analysis of PCR‐amplified DNA fragmentsExpand
REPORT of a novel mutation in the PMP22 gene causing an axonal neuropathy
TLDR
The novel R159C mutation represents a very rare case of a dominant PMP22 mutation causing an axonal neuropathy. Expand
Compound heterozygous PMP22 deletion mutations causing severe Charcot–Marie–Tooth disease type 1
We present a 3⅓-year-old girl with severe Charcot–Marie–Tooth disease type 1 (Dejerine–Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22Expand
Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease
TLDR
An important role is suggested for the putative transmembrane domains of PMP22 in its function in cases of Charcot-Marie-Tooth neuropathy, Dejerine-Sottas disease, and hereditary neuropathy with liability to pressure palsies. Expand
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy
TLDR
It is shown that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of C MT1A/HNPP. Expand
Variable phenotypes are associated with PMP22 missense mutations
TLDR
These findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and confirm that the PMp22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance. Expand
A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine—Sottas syndrome patients
TLDR
The findings support the suggestion that DSS and CMT1 disease should not be considered as two different clinical entities. Expand
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations
TLDR
It is demonstrated that the two genotypes ofarcot-Marie-Tooth disease type 1A and PMP22 exhibit different morphological characteristics, and the differences in pathology between these two very different types of mutations involving the same gene likely reflect differences in pathogenesis and may offer clues in understanding the function of PMP 22. Expand
Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome
TLDR
It is concluded that DSS also exists as a distinct genetic entity with autosomal recessive inheritance as originally defined by Dejerine and Sottas in 1893. Expand
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References

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TLDR
A severely affected CMT1 patient is identified who is a compound heterozygote for a recessive PMP22 point mutation, and a 1.5 Mb deletion in 17p11.2–p12 is identified, suggesting that point mutations in PMP 22 can result in dominant and recessive alleles contributing to CMT 1A. Expand
The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication
TLDR
It is suggested that increased dosage of the PMP–22 gene may be the cause of CMT1A neuropathy. Expand
The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A
TLDR
It is suggested that a gene dosage effect involving PMP–22 is at least partially responsible for the demyelinating neuropathy seen in CMT1A. Expand
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
TLDR
It is demonstrated that a patient with a cytogenetically visible duplication, dup(17)(p11.2p12), has decreased NCV, which supports the hypothesis that the CMT1A phenotype can result from a gene dosage effect. Expand
Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A
TLDR
A point mutation in PMP–22 was found which was completely linked with the Charcot–Marie–Tooth disease type 1A, suggesting that both structural alteration and overexpression of PMP-22 may lead to the disease. Expand
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TLDR
The PMP22 gene has a causative role in Charcot-Marie-Tooth disease type 1 and arose spontaneously and segregated with the CMT type 1 phenotype in an autosomal dominant pattern. Expand
The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A
TLDR
It is shown that the human homologue of the murine pmp–22 gene is located within the CMT1A DNA duplication, which is a direct repeat and does not interrupt the coding region of PMP–22. Expand
Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A
TLDR
A partial yeast artificial chromosome contig spanning the CMT1A gene region is constructed and the PMP–22 gene is mapped to the duplicated region, suggesting that over–expression of this gene may be one mechanism that produces the C MT1A phenotype. Expand
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TLDR
It is proposed that the duplication in 17p11.2 itself is the disease causing mutation in all the HMSN I families analyzed, and different allelic combinations were found segregating with the duplicates in different families linkage disequilibrium was not a significant factor. Expand
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
TLDR
The HNPP locus is assigned to chromosome 17p11.2 and the presence of a large interstitial deletion associated with this disorder is demonstrated in three unrelated pedigrees, suggesting that these genetic disorders may be the result of reciprocal products of unequal crossover. Expand
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