Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease

• DOI: 10.1186/s12920-021-01019-5
• Publication Date: 2021-06-30T12:03:23Z
• Authors: Sumaira Kanwal; Yu JIn Choi; Si On Lim; Hee Ji Choi; Jin Hee Park; Rana Nuzhat; Aneela khan; Shazia Perveen; Byung-Ok Choi; Ki Wha Chung
• Keywords: Human genetics; Sanger sequencing; Exome; Disease gene identification

Abstract Background Charcot–Marie–Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous system disorders. Few studies have identified genetic causes CMT in the Pakistani patients. Methods This study was performed to identify pathogenic mutations five consanguineous families negative for PMP22 duplication. Genomic screening by application whole exome sequencing. Results We or likely homozygous four genes: c.2599C > T (p.Gln867*) c.3650G A (p.Gly1217Asp) SH3TC2 , c.19C (p.Arg7*) HK1 c.247delG (p.Gly83Alafs*44) REEP1 c.334G (p.Val112Met) MFN2 . These not been reported Mutations be associated with CMT4C, CMT4G, dHMN5B (DSMA5B), CMT2A, respectively. The genotype–phenotype correlations were confirmed all examined families. also that both alleles from variants originated single ancestor using homozygosity mapping. Conclusions found novel as underlying CMT. Pathogenic SH3TC2, rarely other populations, suggesting ethnic-specific distribution. would useful exact molecular diagnosis treatment