Clinical electrophysiological and genetic studies on 2 families with ischial atrophy and ischial atrophy

Abstract

In order to study the clinical, electrophysiological and gene mutation characteristics of Charcot-Marie-Tooth disease (CMT), the clinical data, electrophysiological data, whole blood and DNA of the probands and relatives of two families were collected for family analysis. and CMT-related gene testing. The results showed that family 1 was autosomal dominant inheritance, and the MLPA test of the patient indicated the repeat expansion of PMP22 gene. Gene sequencing did not reveal that the patient carried mutations in other CMT-related genes. Furthermore, the repeat expansion of PMP22 gene was found in three affected relatives of the patient, and no unaffected uncle was found to carry the mutation. Family 2 was autosomal recessive, and the proband carried two heterozygous mutations c.730C>T p.Q244X and c.432C>G p.Y144X in the SH3TC2 gene. The patient's parents carried the above two mutations respectively. Therefore, family 1 was diagnosed as CMT1A type, and family 2 was diagnosed as CMT4C type. The relationship between gene and phenotype should be paid attention to in clinical practice. [International Journal of Neurology and Neurosurgery, 2021, 48(6):501-505.]