Investigating Mutations of 288 Genes in a Family with Charcot-Marie-Tooth Disease by the Whole-Exome Sequencing Method in Khuzestan Province

 Genetic factors play an important role in the occurrence of many diseases, including skeletal diseases. Skeletal diseases are sometimes caused by a mutation in a gene that passes on to children according to the Mendelian inheritance pattern, and sometimes several genes are involved in this path and cause heterogeneous disease. The whole-exome sequencing (WES) technique can be a powerful tool in diagnosing this disease.

 Peripheral blood samples (5 mL) were collected from the individuals in EDTA tubes. After sequencing the patient's genome using the WES technique, the candidate genes were checked using the polymerase chain reaction (PCR) technique and Chromas software to confirm the variant in the family.

 After studying the genome using the WES method and analyzing the results, mutation NM_001005373.4:c.1985C>T was identified by creating a nonsense change in the LRSAM1 gene.

 The data obtained by the WES technique can help diagnose the disease faster. In addition, these data can be used as background information in the development of a special panel to diagnose this disorder.