Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity
1Department of Molecular and Human Genetics, Texas Children's Hospital, Baylor College of Medicine, Houston 77030, USA.
Abstract:
Remarkable advances have recently elucidated the molecular genetic basis of inherited peripheral neuropathies. These studies revealed a novel mutational mechanism of a large DNA duplication as a cause for a common autosomal dominant demyelinating neuropathy. A peripheral nerve myelin gene, PMP22, located within the duplication is responsible for the demyelinating neuropathy by virtue of a gene dosage effect. The identification of PMP22 and other genes involved in myelinopathies demonstrate that these diseases represent a spectrum of disorders resulting from defects in myelin structure, maintenance, and/or formation.
More Related Videos
Related Concept Videos
Pedigree Analysis
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Incomplete Dominance
Gene Duplication and Divergence
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...


