J Med Genet 37:579-580 doi:10.1136/jmg.37.8.579
  • Original article

Identification of four novel PMM2mutations in congenital disorders of glycosylation (CDG) Ia French patients


We screened 11 unrelated French patients with congenital disorders of glycosylation (CDG) Ia for PMM2mutations. Twenty one missense mutations on the 22 chromosomes (95%) including four novel mutations were identified: C9Y (G26A) in exon 1, L32R (TA95GC) in exon 2, and T226S (C677G) and C241S (G722C) in exon 8. We studied the PMM activity of these four novel mutant proteins and of the R141H mutant protein in an E coliexpression system. The T226S, C9Y, L32R, and C241S mutant proteins have decreased specific activity (23 to 41% of normal), are all more or less thermolabile, and R141H has no detectable activity. Our results indicate that the new mutations identified here are less severe than the inactive R141H mutant protein, conferring residual PMM activity compatible with life.