Pompe disease GAA variant database
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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
c.858+30T>C not disease-associated 0
c.858+37C>T unknown 0
PubMed c.859-2A>T exon 19 c.2662G>T Classic infantile Classic infantile 4.9 months F died at <18.7 months + 1 South China
PubMed c.859-2A>T exon 19 c.2662G>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.861C>T exon 5 c.925G>A Classic infantile Childhood unknown unknown 1 Netherlands
c.868A>G unknown 0
PubMed c.871C>T exon 16 c.2238G>C Childhood or Adult Childhood 12 years M 12 years - 1 China
c.872T>A no combination/ no patient data reported 0
PubMed c.872T>C exon 13 c.1798C>T Classic infantile Classic infantile 4 months died 1 Taiwan
PubMed c.872T>C exon 5 c.872T>C Classic infantile Classic infantile 1 month died 1 Taiwan
PubMed c.872T>C exon 14 c.1935C>A Classic infantile Classic infantile unknown NBS 1 Taiwan
PubMed c.875A>G exon 18 c.2560C>T Classic infantile Childhood 10 months M 2 years + 1 Dominican Republic/ Caucasian
PubMed c.875A>G second mutation is not reported Childhood 7 years F 8 years + (provoked by Epstein Barr virus infection) + + + + 1 Netherlands
PubMed c.875A>G second mutation is not reported Childhood 2 years 9 years 1 Netherlands
PubMed c.875A>G intron 1B c.-32-13T>G Childhood or Adult Adult unknown 60 years + 1 Spain
PubMed c.875A>G exon 13 c.1857C>G Classic infantile or Childhood Childhood 6 months M 3.8-5.5 years + + + 1 Korea
PubMed c.875A>G exon 13 c.1822C>T Classic infantile Classic infantile 1 months M 2 m + - + (at 1 M) + (at 1 M) + (at 5 m) + 1 Korea
PubMed c.876C>G exon 6 c.1003G>A Classic infantile Classic infantile 7 months 9 months + 1 Thailand
PubMed c.876C>G exon 5 c.876C>G Classic infantile Classic infantile 1 months 5 months + + 1 Thailand
PubMed c.877G>A exon 4 c.710C>T Adult Adult 26 years F 30 years + 1 Germany
PubMed c.877G>A exon 4 c.710C>T Adult Adult 26 years F 27 years - - - Stroke at 28 years 1 Caucasian
PubMed c.877G>A exon 4 c.716del Classic infantile Classic infantile <1 year <1.5 years + 1 Afghan
PubMed c.877G>A exon 4 c.719T>C Adult Adult 25 years 41 years - + - 1 Germany
PubMed c.877G>A intron 1B c.-32-13T>G Childhood or Adult Adult 48 years 46 years 1 Italy
PubMed c.877G>A intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <4 months M unknown + 1 Italy
PubMed c.877G>A intron 1B c.-32-13T>G Childhood or Adult Adult 20 years/55 years 42 years/53 years +/+ 2 Germany
PubMed c.877G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 13 years 51 years - + + 1 Germany
PubMed c.877G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.877G>A intron 1B c.-32-13T>G Childhood or Adult Adult 21 years/ 18 years M/F 27 years/ 18,5 years -/- -/- 2 Austria
PubMed c.877G>A exon 5 c.877G>A Classic infantile Classic infantile 1 months 3 months + + + 1 Thailand
PubMed c.877G>A exon 5 c.877G>A Classic infantile Classic infantile <12 months + 0
PubMed c.877G>A second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.878G>T second mutation is not reported Childhood or Adult 1 France
PubMed c.878G>T second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.883C>A second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.885C>G exon 7 c.1128_1129delinsC Classic infantile Adult unknown 65 years 1 Germany
PubMed c.893A>C exon 9 c.1375G>A Unknown (disease-associated) Childhood unknown unknown 1 Taiwan
PubMed c.896T>G intron 17 c.2481+102_2646+31del Classic infantile Classic infantile unknown unknown 1 unknown
PubMed c.896T>C exon 5 c.896T>C Classic infantile unknown (2) unknown (2) M/ M NBS/NBS 2 Austria
PubMed c.896T>C intron 1B c.-32-13T>G Childhood or Adult Adult unknown unknown 1 Caucasian
PubMed c.896T>C exon 5 c.896T>C Classic infantile Classic infantile unknown unknown 1 Germany
PubMed c.896T>C exon 5 c.896T>C Classic infantile Classic infantile <6 months M died at 3 years + 1 Germany
PubMed c.896T>C intron 1B c.-32-13T>G Childhood or Adult Adult 21 years/unknown M/ F 35 years/37 years -/- +/- -/- -/- 2 Turkey
PubMed c.896T>C intron 1B c.-32-13T>G Childhood or Adult Childhood 17 years M 34 years - - - 1 unknown
PubMed c.896T>C exon 4 c.742del Classic infantile Classic infantile 4 months F 6 months + - 1 Italy
PubMed c.896T>C exon 5 c.896T>C Classic infantile Classic infantile 0 months F 3 months + + + + 1 Turkey
PubMed c.896T>C intron 1B c.-32-13T>G Childhood or Adult Adult 47 56 1 Unknown
c.915G>A unknown 0
PubMed c.915G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.915G>A exon 16 c.2236T>C Classic infantile Childhood or Adult 1 USA

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