Pompe disease GAA variant database
Displaying 2651 - 2700 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.2662G>T intron 4 c.859-2A>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.2662G>T exon 19 c.2662G>T Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
PubMed c.2662G>T exon 8 c.1298A>C Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
PubMed c.2662G>T exon 11 c.1597T>G Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
PubMed c.2662G>T exon 8 c.1241del Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Southern China
PubMed c.2662G>T intron 1B c.-32-13T>G Childhood or Adult Adult 36 years/31 years F/F 37 years/31 years -/- -/- -/- -/- 2 Turkey
PubMed c.2662G>T intron 1B c.-32-13T>G Childhood or Adult Adult 20 years M 23 years - + + - 1 Iran
PubMed c.2662G>T exon 19 c.2662G>T Classic infantile Classic infantile 0-1 months M 1 month 1 Germany
PubMed c.2662G>T intron 1B c.-32-13T>G Childhood or Adult Childhood 6 years/ 4 years/ 8 years M / F / F 28 years/ 14 years/ 18 years 3 Poland
PubMed c.2662G>T exon 19 c.2662G>T Classic infantile Classic infantile <12 months + 0
PubMed c.2662G>T exon 16 c.2238G>C Childhood or Adult Adult 21 years F 1 China
PubMed c.2702T>A exon 14 c.1933G>A Classic infantile Childhood 8 months M 6 years + mild LVH - + + 1 Germany
PubMed c.2706del second mutation is not reported unknown <2 years unknown 2 unknown
PubMed c.2707_2709del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile unknown M died 1 Dutch
PubMed c.2716G>A exon 7 c.1192del Unknown (disease-associated) Adult young adult M + - 1 Caucasian
PubMed c.2720T>C second mutation is not reported Childhood <12 years - 1
c.2724C>G unknown 0
PubMed c.2725G>A second mutation is not reported Childhood <12 years - 0
PubMed c.2738C>G intron 1B c.-32-13T>G Childhood or Adult Childhood 3 years M 23 years FVC 25% 1 Germany
PubMed c.2740dup intron 1B c.-32-13T>G Childhood or Adult Adult 27 years F 31 years - - - - 1 Turkey
PubMed c.2740dup exon 19 c.2740dup Unknown (disease-associated) Classic infantile <12 months + 0
PubMed c.2741delinsCAG exon 19 c.2741delinsCAG Classic infantile Classic infantile 3 months F 7 months + + 1 Germany
PubMed c.2741delinsCAG exon 19 c.2741delinsCAG Classic infantile Classic infantile shortly after birth <1 year + (3) 3 Turkey
PubMed c.2741delinsCAG exon 19 c.2741delinsCAG Classic infantile unknown <2 years unknown 1 unknown
PubMed c.2741delinsCAG exon 19 c.2741delinsCAG Classic infantile Classic infantile <12 months + 0
PubMed c.2742dup exon 19 c.2742dup Classic infantile Classic infantile <12 months + 0
PubMed c.2742dup exon 19 c.2742dup Classic infantile Classic infantile <12 months + 0
PubMed c.2744A>C exon 19 c.2744A>C Unknown (disease-associated) Childhood unknown 7 years - - - 1 UK
PubMed c.2744A>C exon 19 c.2744A>C Unknown (disease-associated) Childhood <12 years + 0
PubMed c.2746G>T intron 1B c.-32-13T>G Childhood or Adult Adult 51 years M 50 years - Spirometry indicated moderate restriction - + + 1 Serbia
PubMed c.2757del intron 1B c.-32-13T>G Childhood or Adult Childhood 15 years M 40 years 1 France
PubMed c.2757del second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2758_2775dup second mutation is not reported Classic infantile unknown unknown 1 UK
c.2770T>C unknown 0
c.2780C>T not disease-associated 0
PubMed c.2783A>G second mutation is not reported unknown <2 years unknown 2 Indian
PubMed c.2783A>G exon 14 c.2015G>T Unknown (disease-associated) Childhood Juvenile 1 USA
PubMed c.2783A>G second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.2799+4A>G exon 10 c.1548G>A Classic infantile Adult 32 years F 53 years - - + 1 unknown
PubMed c.2799+4A>G exon 18 c.2501_2502del Classic infantile Childhood or Adult 1 USA
PubMed c.2799+5G>A intron 19 c.2799+5G>A Unknown (disease-associated) Childhood 11 months F 11 months - + 1 Algeria
c.2800-60G>A unknown 0
c.2800-227C>G not disease-associated 0
PubMed c.2800-4C>G intron 7 c.1195-15G>A Unknown (disease-associated) Adult 39 years F 49 years - - - - 1 Caucasian
PubMed c.2800-4C>G second mutation is not reported Childhood 0-2 months F 2 months 1 Germany
PubMed c.2800-1G>C exon 13 c.1802C>G Unknown (disease-associated) Classic infantile 10d M 3 + Tracheostomy + moderate periventricular white matter abnormalities 1 Italy
PubMed c.2800-1G>C second mutation is not reported Classic infantile <12 months + 0
c.2804T>C no combination/ no patient data reported 0
c.2808C>T unknown 0
PubMed c.2815_2816del exon 6 c.998C>A Classic infantile Classic infantile 1 month F died at 12 months + + + 1 China

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

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