Hereditary motor-sensory neuropathies (HMSN) are a heterogeneous group of disorders of peripheral nervous system. Four genes in HMSN have been characterized so far i.e.: PMP22, MPZ, Cx32 and EGR-2. The advent of molecular genetic techniques over the past few years has provided identification of molecular defects in a few forms of HMSN. The present study describes the application of modern molecular genetic methods, which are used in the studies of HMSN. Southern blot hybridisation, Fluorescence in situ hybridisation (FISH), Short Tandem Repeat analysis (STR), Semiquantitative PCR analysis (SQ-PCR), Single Strand Conformation Polymorphism method (SSCP), Heteroduplex analysis (HD) and finally DNA automated sequencing are described in the present paper. In the conclusions the advantages and limits of mentioned methods of DNA analysis in HMSN have been described.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
A Novel Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.
Genes (Basel)
November 2024
Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy.
Background/objectives: Axonal Charcot-Marie-Tooth disease type 2 (CMT2) accounts for 24% of Hereditary Motor/Sensory Peripheral Neuropathies. CMT2 type GG, due to four distinct heterozygous mutations in the Golgi brefeldin A resistant guanine nucleotide exchange factor 1 () gene (OMIM 606483), was described in seven cases from four unrelated families with autosomal dominant inheritance. It is characterized by slowly progressive distal muscle weakness and atrophy, primarily affecting the lower limbs.
View Article and Find Full Text PDFExpanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.
BMC Neurol
October 2024
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, 26000, Pakistan.
Background: Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration. HMSN is highly clinically and genetically heterogeneous with multiple inheritance patterns and phenotypic overlap with other inherited neuropathies and neurodegenerative diseases. Due to this high complexity and genetic heterogeneity, this study aimed to elucidate the genetic causes of HMSN in Pakistani families using Whole Exome Sequencing (WES) for variant identification and Sanger sequencing for validation and segregation analysis, facilitating accurate clinical diagnosis.
View Article and Find Full Text PDFArticle Synopsis
- Charcot-Marie-Tooth disease type 4C (CMT4C) is a common type of recessive neuropathy caused by genetic variants in a specific gene.
- A study of 700 unrelated Russian patients found 10 cases of CMT4C, indicating a prevalence of 2.5% among those with demyelinating neuropathy.
- Researchers identified 4 new and 9 previously known genetic variants related to CMT4C, with one variant (p.Arg954*) appearing in about 30% of the patients, showing no major variant accumulation overall.
Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture.
Muscle Nerve
June 2024
S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!