Pompe disease GAA variant database
Displaying 1551 - 1600 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.1526A>T second mutation is not reported Childhood or Adult 1 France
PubMed c.1526A>T second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1537G>A second mutation is not reported Childhood <12 years - 0
PubMed c.1538A>G exon 10 c.1538A>G Classic infantile Classic infantile 5 months 11 months + 1 Thailand
PubMed c.1540G>C exon 10 c.1540G>C Classic infantile Classic infantile 4 months unknown 1 Afghan
PubMed c.1544T>A exon 8 c.1309C>T Childhood Adult 18 years M 23 years incomplete right bundle branch block + at night + - - - 1 Japan
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 10 years unknown 1 Netherlands
PubMed c.1548G>A second mutation is not reported Classic infantile 5.5 months F 30 months + - - 1 Caucasian
PubMed c.1548G>A exon 2 c.525del Classic infantile Classic infantile <3 months M 15 weeks + 1 Caucasian
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 48 years F 48 years - - 1 USA
PubMed c.1548G>A intron 19 c.2799+4A>G Adult Adult 32 years F 53 years - - + 1 unknown
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 2 USA
PubMed c.1548G>A exon 10 c.1470C>A Childhood Childhood 6 years M 6,5 years + 1 Austria
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult ranging 12 to 40 years 5 France
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 12 years F 51 years 1 France
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 44 male 63 + + 1 Dutch
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 31 male 43 + + + 1 Dutch
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 62 female 72 + 1 Dutch
PubMed c.1548G>A intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 7 9.4647501711157 1 Unknown
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 49 50 1 Unknown
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 29 39 1 Unknown
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 22 24 1 Unknown
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 30 38 1 Unknown
PubMed c.1551+1G>C intron 1B c.-32-13T>G Childhood or Adult Adult unknown F 40 years + 1 Italy
PubMed c.1551+1G>C exon 7 c.1082C>T Classic infantile Childhood <3 years F unknown 1 Italy
PubMed c.1551+1G>C intron 1B c.-32-13T>G Childhood or Adult Adult 35 years M 45-50 years + 1 Italy
PubMed c.1551+1G>C intron 9 c.1437+2T>C Classic infantile Classic infantile unknown M 50 days 1 Italy
PubMed c.1551+1G>C intron 12 c.1755-1G>A Classic infantile Classic infantile 3 months M died at 6 months + + + 1 Spain
PubMed c.1551+1G>T intron 1B c.-32-13T>G Childhood or Adult Childhood (1)/ Adult (1) 16 years/28 years F/ F 19 years/35 years +/+ 2 France
PubMed c.1551+1G>T exon 8 c.1256A>T Unknown (disease-associated) Childhood unknown F 1.3 years 1 Greece
PubMed c.1551+1G>T intron 1B c.-32-13T>G Childhood or Adult Childhood 15 years M 28 years 1 France
PubMed c.1551+1G>T second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.1551+1G>A exon 15/intron 10 c.[2173C>T; c.1551+1G>A] Childhood or Adult/ Classic infantile Childhood 14 years M 40 years + + + + 1 France
PubMed c.1551+1G>A intron 1B c.-32-3C>G Unknown (disease-associated) Childhood unknown 8.5 years 1 unknown
PubMed c.1551+2T>G exon 14 c.1935C>A Classic infantile Classic infantile 6.8 months M died at <18.7 months + 1 Northern China
PubMed c.1551+2T>G exon 11 c.1562A>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.1551+3_1551+6del exon 16 c.2238G>C Childhood or Adult Adult 23 years F 23 years + + 1 China
PubMed c.1551+3A>T second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1551+5G>A exon 13 c.1824_1828dup Unknown (disease-associated) Childhood early infancy M 3 y - - + Gower's sign 1 India
c.1551+42G>A not disease-associated 0
c.1551+49C>A not disease-associated 0
c.1551+49C>T unknown 0
PubMed c.1552-3C>G intron 10 c.1552-3C>G Unknown (disease-associated) Childhood 11 years F 33 years - + 1 Greece
PubMed c.1552-3C>G intron 10 c.1552-3C>G Unknown (disease-associated) NBS NBS 1 Hungary
PubMed c.1555A>G intron 8 c.1326+1G>A Classic infantile Classic infantile unknown 23 months 1 African American
PubMed c.1556T>C exon 2 c.525del Classic infantile Classic infantile <1 year <1.5 years + 1 Netherlands
PubMed c.1556T>C second mutation is not reported Classic infantile <1 year unknown + 1 Belgium
PubMed c.1559A>G second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1560C>G second mutation is not reported Childhood or Adult 1 France

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