Coexistence of peripheral myelin protein 22 and dystrophin mutations in a chinese boy

Abstract

This is an interesting and very rare case of CMT type 1A comorbid with DMD. This results in an unusual phenotype and rapid deterioration of motor function. Usage of both target region capture and next generation sequencing is a powerful tool for predicting precisely the range of the large DNA fragment deletion in DMD.

Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy

“…Some studies describe combinations of DMD caused by deletions in the DMD gene with skeletal dysplasia: osteogenesis imperfecta (mutations in the COL1A1 gene) and pseudoachondroplasia (mutation in the COMP gene) [15]. A Czech patient had a phenotype caused by the combination of a point mutation in the DMD gene and a duplication of the PMP22 gene causing CMT1A (Charcot-Marie-Tooth disease type 1A) [16], and a Chinese patient had a phenotype caused by a duplication of the PMP22 gene and a DMD deletion [17]. In both cases, CMT1A was inherited by families from generation to generation, and DMD was caused by de novo mutations.…”

Unveiling a Rare Coexistence: Duchenne Muscular Dystrophy with Charcot–Marie–Tooth Disease Type 1A Presentation

“…Wang et al . [ 9 ] also described a 10-year-old Chinese boy with features of Charcot–Marie–Tooth (CMT) disease and DMD [ Table 1 ]. Bütefisch et al .…”