We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families-two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.
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Epigenetic regulation of the human gene.
Biochem Biophys Rep
December 2024
Laboratory of Epigenetics, Institute of Medical Biology, Polish Academy of Sciences, Lodowa 106, 93-232, Lodz, Poland.
Mutations in the ganglioside-induced differentiation-associated protein 1 () gene are linked to Charcot-Marie-Tooth (CMT) disease, a hereditary neurodegenerative condition. The protein encoded by this gene is involved in mitochondrial fission and calcium homeostasis. Recently, GDAP1 has also been implicated in the survival of patients with certain cancers.
View Article and Find Full Text PDFGenetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.
J Peripher Nerv Syst
June 2024
Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Article Synopsis
- This study investigates the genetic and clinical features of Charcot-Marie-Tooth disease (CMT) in 28 Chinese patients carrying mutations in the GDAP1 gene, which is linked to the disease's development.
- Researchers identified 16 pathogenic GDAP1 variants, including two novel ones, and the majority of patients exhibited either autosomal dominant (AD) or autosomal recessive (AR) CMT2K phenotypes, with AR patients showing earlier and more severe symptoms.
- The findings highlight significant intra-familial variability in symptoms among AD patients and suggest that GDAP1 screening is crucial for Chinese CMT2 patients due to the complexity of the disease's inheritance.
Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects.
J Genet Eng Biotechnol
November 2023
Department of Otorhinolaryngology, Astana Medical University, Astana City, 010000, Kazakhstan.
Introduction: Mutations in GDAP1 (Ganglioside-induced differentiation-associated protein 1) gene are linked to Charcot-Marie-Tooth disease (CMT), a Heterogenous group of disorders with multiple phenotypes, characterized by peripheral nerve dysfunction that can lead to vocal cord paralysis and diaphragmatic dysfunction.
Main Body: All three affected children of this chosen family have manifested the same clinical symptoms with progressive weakness, mild sensory impairment, and absent tendon reflexes in their early years. Electrodiagnostic analysis displayed an axonal type of neuropathy in affected patients.
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