Pompe disease GAA variant database
Displaying 251 - 300 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.-32-13T>G exon 14 c.1912G>T Classic infantile Adult/ Childhood 50 years/ 13 years M/M 54 years/ 58 years NA/+ NA/+ 2 Brazil
PubMed c.-32-13T>G exon 2 c.445A>C Unknown (disease-associated) Childhood 2,5 years M - - 1 Portugal
PubMed c.-32-13T>G exon 7 c.1153del Unknown (disease-associated) Childhood/ Adult 4 years/48 years F/M - - /Orthopnea 2 Portugal
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 36 years M + 1 Portugal
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Childhood 5 years M 35 years - - - 1 Algeria
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Childhood/ Adult 14 years/? F/M 22 years/29 years -/- -/- -/ FVC 72% +/NA NA/+ 2 Germany
PubMed c.-32-13T>G exon 6 c.1051del Unknown (disease-associated) Childhood 9 months F 12 months - during night + - 1 Austria
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Childhood 10 months M 18 months - 1 Austria
PubMed c.-32-13T>G exon 5 c.877G>A Classic infantile Adult 21 years/ 18 years M/F 27 years/ 18,5 years -/- -/- 2 Austria
PubMed c.-32-13T>G exon 14 c.1912G>T Classic infantile Adult 44 years F 54 years + 1 Austria
PubMed c.-32-13T>G exon 16 c.2281delinsAT Unknown (disease-associated) Adult 18 years F 19 years + 1 Austria
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Adult 25/46 years F/M 18/46 years + 1 Austria
PubMed c.-32-13T>G second mutation is not reported Adult 22 years F 23 years + 1 Austria
PubMed c.-32-13T>G exon 6 c.1051del Unknown (disease-associated) Adult 21 years /24 years M/M 21,5 years/58 years +/- +/+ 2 Austria
PubMed c.-32-13T>G exon 2 c.271G>A Unknown (disease-associated) Adult 47 years/28 years F/M 50 years/36 years -/+ 2 Austria
PubMed c.-32-13T>G exon 2 c.271del Unknown (disease-associated) Adult NA F NA + 1 Austria
PubMed c.-32-13T>G intron 5 c.955+2T>G Unknown (disease-associated) Adult NA M NA + 1 Austria
PubMed c.-32-13T>G intron 1B c.-32-1G>C Unknown (disease-associated) Adult 40 years F 68 years + 1 Austria
PubMed c.-32-13T>G exon 18 c.2608C>T Classic infantile Adult NA F NA 1 Austria
PubMed c.-32-13T>G exon 17 c.2380dup Unknown (disease-associated) Childhood 15 years M 15,5 years 1 Austria
PubMed c.-32-13T>G exon 15 c.2051C>G Unknown (disease-associated) Childhood 11 M 14 1 Austria
PubMed c.-32-13T>G exon 4 c.784G>A Classic infantile Adult early adult/adult 49 years/33 years -/- 2 Italy
PubMed c.-32-13T>G exon 11 c.1564C>G Classic infantile Adult adult 71 years - 1 Italy
PubMed c.-32-13T>G exon 14 c.1927G>A Classic infantile Adult adult 63 - 1 Italy
PubMed c.-32-13T>G exon 7 c.1124G>T Classic infantile Adult early adult (5)/adult (2)/childhood (1) 40/47/50/45/42/33/45 years/ NA -/-/-/-/-/-/-/+ +/+/-/-/-/-/-/+ 8 Italy
PubMed c.-32-13T>G exon 16 c.2237G>A Classic infantile Adult early adult/adult (2) 63 years/61 years/64 years +/+/+ 3 Italy
PubMed c.-32-13T>G exon 6 c.989G>A Unknown (disease-associated) Adult early adult 56 years - 1 Italy
PubMed c.-32-13T>G exon 18 c.2560C>T Classic infantile Adult 48 years M 50 years - + + + 1 Costa Rica
PubMed c.-32-13T>G exon 15 c.2066_2070dup Unknown (disease-associated) Adult 37 years M 37 years - + + - + 1 Greece
PubMed c.-32-13T>G exon 19 c.2662G>T Classic infantile Adult 36 years/31 years F/F 37 years/31 years -/- -/- -/- -/- 2 Turkey
PubMed c.-32-13T>G exon 8 c.1209C>A Unknown (disease-associated) Adult 37 years M 41 years - - - - 1 Turkey
PubMed c.-32-13T>G exon 19 c.2740dup Unknown (disease-associated) Adult 27 years F 31 years - - - - 1 Turkey
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Childhood 17 years F 35 years - - - + + - 1 Turkey
PubMed c.-32-13T>G second mutation is not reported NBS NBS 0 months 2 Mexico
PubMed c.-32-13T>G exon 11 c.1564C>G Classic infantile Adult 36 years M 36-71 years + + + + + 1 Italy
PubMed c.-32-13T>G exon 12 c.1655T>C Classic infantile Adult 56 years F 66 years - Bent spine syndrome 1 France
PubMed c.-32-13T>G exon 14 c.1927G>A Classic infantile Adult 56 years F 64 years - Bent spine syndrome 1 France
PubMed c.-32-13T>G intron 12 c.1754+1dup Unknown (disease-associated) Adult 41 years M 51 years Bent spine syndrome 1 France
PubMed c.-32-13T>G exon 2 c.118C>T Classic infantile Adult 20 years F 77 years + Bent spine syndrome 1 France
PubMed c.-32-13T>G exon 12 c.1650del Unknown (disease-associated) Adult M/F 26/34 years +/+ 2 Iran
PubMed c.-32-13T>G exon 12 c.1694_1697del Unknown (disease-associated) Adult 34 years 44 years - 1 Italy
PubMed c.-32-13T>G exon 16 c.2237G>A Classic infantile Adult 29 years/41 years 58 years/41 years +/- 2 Italy
PubMed c.-32-13T>G exon 14 c.1927G>A Classic infantile Childhood 14 years 35 years - 1 Italy
PubMed c.-32-13T>G second mutation is not reported Adult 53 years 59 years - 1 Italy
PubMed c.-32-13T>G exon 15 c.2104C>T Classic infantile Childhood 13 years 29 years - 1 Italy
PubMed c.-32-13T>G intron 17 c.2481+102_2646+31del Classic infantile Adult 35 years/22 years 41 years/48 years -/- 2 Italy
PubMed c.-32-13T>G exon 16 c.2219_2220del Unknown (disease-associated) Adult 27 years 28 years + 1 Italy
PubMed c.-32-13T>G exon 4 c.784G>A Classic infantile Adult 32 years/35 years 42 years/75 years -/- 2 Italy
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 22/70/34/46/28 years 59/76/35/61/58 years -/+/+/+/- 5 Italy
PubMed c.-32-13T>G exon 16 c.2298_2301delinsAAAGTA Unknown (disease-associated) Adult 46 years 63 years + 1 Italy

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