[Show abstract][Hide abstract] ABSTRACT: To investigate the genetic loci/mutations among the Chinese Charcot-Marie-Tooth disease type 1 (CMT1), which accounts for approximately 70% of Charcot-Marie-Tooth; and to study the genetic heterogeneity and mutation frequency.
CMT1A duplication and mutations at loci of MPZ, Cx32/GJB1, EGR2, and LITAF/SIMPLE were analyzed among 32 clinically diagnosed CMT1 patients of Chinese ancestry.
The CMT1A duplication was detected in 62.5% (20/32) CMT1 patients. This duplication accounts for the major mutation for Chinese CMT1. Among 12 cases that have no CMT1A duplication detected, three point mutations including one (3.1%) in MPZ and two (6.3%) in Cx32 were identified. No mutation was detected in genes PMP22, EGR2 and LITAF among the remaining nine (28.1%) CMT1 patients.
The mutation frequency for the Chinese CMT1 is similar to that seen in the global ethnic population. Molecular testing of the CMT1A duplication, along with the loci of MPZ and Cx32, may detect the majority of Chinese CMT1 patients.
Genetics in Medicine 09/2006; 8(8):532-5. DOI:10.1097/01.gim.0000232481.96287.89 · 7.33 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Lysosomal storage diseases (LSDs) are a group of inherited disorders caused by deficiency of lysosomal enzymes or structural components. LSDs have been models of molecular and cellular therapies for inherited metabolic diseases. Enzyme replacement therapy (ERT), bone marrow transplantation and substrate reduction therapy (SRT) have been shown to be effective for many of the LSDs. Early diagnosis and treatment have best chance for a positive outcome. We reviewed the case reports, diagnosis and treatment of LSDs in China. World J Pediatr 2006;4:245-251