Paper Information

Journal:   ARCHIVES OF IRANIAN MEDICINE   FEBRUARY 2013 , Volume 16 , Number 2; Page(s) 126 To 128.
 
Paper: 

DETECTION OF A NOVEL MUTATION IN THE GAA GENE IN AN IRANIAN CHILD WITH GLYCOGEN STORAGE DISEASE TYPE II

 
DOI: 

013162/AIM.0015

 
Author(s):  GALEHDARI HAMID*, EMAMI MOZHGAN, MOHAMMADIAN GHOLAMREZA, KHODADADI ALI, AZMOON SOMAYEH, BARADARAN MASUMEH
 
* DEPARTMENT OF GENETICS, FACULTY OF SCIENCE, SHAHID CHAMRAN UNIVERSITY, GOLESTAN AVE., AHWAZ 6135743337, IRAN
 
Abstract: 

Glycogen storage disease II (GSDII or Pompe disease, OMIM # 232300) is an autosomal recessive hereditary lysosomal disorder. Mutations in the GAA gene usually lead to reduced acid a-glucosidase (acid maltase, GAA, OMIM *606800, EC 3.1.26.2) activity, which results in impaired degradation and subsequent accumulation of glycogen within lysosomes. We present an Iranian boy, who was diagnosed with GSDII based upon clinical and biochemical findings. A single adenine insertion (insA) was detected at codon 693 that leads to a predicted premature stop codon at codon 736 in the GAA gene. The parents were heterozygous for the same change. According to the human genome mutation database (www.hgmd.org) and lecture reviews, the detected change is a novel mutation. We suppose that the discovered insertion in the GAA gene might lead to a reduced activity of the gene product. This assumption is in agreement with biochemical and clinical signs in the patient.

 
Keyword(s): ACID A-GLUCOSIDASE, GLYCOGEN STORAGE DISORDER TYPE II, IRANIAN, NOVEL MUTATION, POMPE DISEASE
 
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