Pompe disease GAA variant database
Displaying 2701 - 2717 of 2717
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patients 		Allele 1 DNA Allele 2
Location 		Allele 2 DNA Allele 2
Phenotype with a null allele 		Phenotype
of patient 		Age of
Onset 		Gender Age at
analysis 		Cardiomyopathy Liver/
Spleen 		Ventilatory
support 		Respiratory
problems 		Wheelchair
dependency 		Mobility
problems 		(Kypho)
Scoliosis 		Ptosis Scapular
winging 		Cerebral vessels
anomalies 		No of patients
reported 		Country/Region
PubMed c.2815_2816del second mutation is not reported unknown unknown unknown 1 Taiwan
PubMed c.2815_2816del exon 18 c.2585del Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Southern China
PubMed c.2815_2816del exon 14 c.1935C>A Classic infantile Classic infantile ~3.4 months F/M ~4.9 months +/+ +/+ 2 Southern China
PubMed c.2815_2816del exon 14 c.1935C>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.2843dup exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Classic infantile 29 days M NBS + 1 Taiwan
PubMed c.2843dup second mutation is not reported Classic infantile <12 months + 0
PubMed c.2843dup heteroyzgous carrier NBS NBS 1 Taiwan
PubMed c.2845_2847del second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2846T>A exon 18 c.2560C>T Classic infantile unknown unknown 3 months 1 Africa
c.*3G>A unknown 0
c.*16T>A unknown 0
c.*91G>A not disease-associated 0
c.*140del unknown 0
c.*143C>T unknown 0
c.*154_*155insG unknown 0
c.*223C>T not disease-associated 0
c.*227G>C unknown 0

The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC.

We kindly ask you to reference one of the following articles if you use this database for research purposes:

de Faria, DOS, in 't Groen, SLM, Bergsma, AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation. 2021; 42: 119-134. https://doi.org/10.1002/humu.24148

Niño, MY, in 't Groen, SLM, Hoogeveen-Westerveld, M, et al. Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity. Human Mutation. 2019; 40: 1954–1967. https://doi.org/10.1002/humu.23854

www.pompecenter.nl