Two new mutations in the 3′ coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient

摘要: Glycogen storage disease type III (GSD III) is an autosomal recessive caused by the deficiency of glycogen debranching enzyme (AGL). We report finding two new mutations in a GSD IIIa Ashkenazi Jewish patient. Both are insertion adenine into stretch 8 adenines towards 3′ end coding region: one at position 3904 (3904insA) exon 30, second 4214 (4214insA) 32. The cause frameshifts and premature terminations enzyme, first causing frameshift amino acid 1304, 1408 total 1532. These demonstrate importance 125 acids carboxy-terminus debrancher for its activity support suggestion that putative binding domain located AGL. distinctive single-strand conformation polymorphism (SSCP) patterns enabling easy detection.