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Identification of a compound heterozygous mutation in GDAP1 gene in a consanguineous South Indian family with Charcot-Marie-Tooth
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Identification of a compound heterozygous mutation in GDAP1 gene in a consanguineous South Indian family with Charcot-Marie-Tooth
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Identification of a compound heterozygous mutation in GDAP1 gene in a consanguineous South Indian family with Charcot-Marie-Tooth
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Journal Article
Identification of a compound heterozygous mutation in GDAP1 gene in a consanguineous South Indian family with Charcot-Marie-Tooth
2025
Overview
Charcot-Marie-Tooth (CMT) is a clinically, electro-physiologically, and genetically heterogenous group of muscle disease which is also known as hereditary motor and sensory neuropathy. Autosomal recessive forms of CMT type 4A have been reported with either homozygous or compound heterozygous mutations in a gene that encodes ganglioside-induced differentiation-associated protein-1 (GDAP1). GDAP1 is located on 8q21, and plays a major role in ganglioside differentiation and Schwann cell function, as well as regulates neuronal and axonal development. The combined results support the fact that these two mutations in GDAP1 link the genotype-phenotype correlation in the family. This will help the family in genetic testing, counseling, and early diagnosis. Our findings support expanded phenotypic characterization along with the genetic spectrum of GDAP1 mutations in CMT type4A in the Indian population.
Publisher
Springer
Subject
