Pompe disease GAA variant database
Displaying 551 - 600 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 5 c.923A>C Classic infantile Childhood 0.8 1.07871321013 1 Unknown
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Adult 43 44 1 Unknown
PubMed c.-32-13T>G exon 5 c.925G>A Classic infantile Adult 38 49 1 Unknown
PubMed c.-32-13T>G exon 16 c.2314T>C Unknown (disease associated) Adult 26 29 1 Unknown
PubMed c.-32-3C>G intron 10 c.1551+1G>A Unknown (disease-associated) Childhood unknown 8.5 years 1 unknown
PubMed c.-32-3C>G intron 1B c.-32-3C>G Unknown (disease-associated) Childhood or Adult >12 years N.A. 1
PubMed c.-32-3C>A exon 12 c.1655T>C Classic infantile Classic infantile <6 months M unknown + 1 Italy
PubMed c.-32-3C>A exon 14 c.1905C>A Classic infantile Childhood 7 years M 15 years - + 1 Brazil
PubMed c.-32-3C>A exon 10 c.1447G>A Classic infantile Childhood 10 years M 24 years - 1 Brazil
PubMed c.-32-3C>A exon 15 c.2173C>T Childhood or Adult Childhood 12 years F 23 years + 1 Brazil
PubMed c.-32-3C>A intron 1B c.-32-3C>A Childhood Adult 35 years/36 years/34 years M/ F/ F 43y/46y/46y -/-/- -/+/- 3 Brazil
PubMed c.-32-3C>A intron 1B c.-32-3C>A Childhood Adult 32 years/31 years/43 years F/ M/ M 46y/40y/44y +/-/- +/+/+ -/-/- +/+/- 3 Brazil
PubMed c.-32-3C>A exon 2 c.482_483del Unknown (disease-associated) Childhood 16 years F 28 years + + + + 1 France
PubMed c.-32-3C>A intron 1B c.-32-3C>A Childhood Adult 41 years 48 years 1 Brazil
PubMed c.-32-3C>A exon 2 c.482_483del Unknown (disease-associated) Childhood 16 years F 19 years 1 France
PubMed c.-32-3C>A intron 1B c.-32-3C>A Childhood Childhood or Adult >12 years N.A. 1
PubMed c.-32-2A>G intron 17 c.2481+102_2646+31del Classic infantile Childhood (1)/ Adult (2) 20 years/19 years/17 years F/ M/ M 33y/35y/36y -/-/- -/-/- -/-/- -/-/- -/-/- +/+/+ 3 Colombia
PubMed c.-32-1G>C second mutation is not reported Childhood or Adult 1 France
c.1A>T no combination/ no patient data reported 0
PubMed c.1A>G exon 2 c.1A>G Classic infantile or Childhood unknown <2 years unknown 1 unknown
PubMed c.1A>G exon 2 c.1A>G Classic infantile or Childhood Classic infantile 2 months M 6 months + Tracheostomy + 1 Italy
PubMed c.1A>G second mutation is not reported Classic infantile <12 months + 4 Northern India, Southern India
PubMed c.2T>C exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Childhood >2 years 14 years + + 1 China
PubMed c.2T>C exon 13 c.1826dup Classic infantile Childhood 16 months M + - NA NA NA 1 Japan
PubMed c.3G>A exon 5 c.923A>C Classic infantile unknown <2 years unknown 1 unknown
PubMed c.18_25del exon 2 c.136T>C Classic infantile Classic infantile at birth M 9 months + + 1 Brazil
PubMed c.25del intron 1B c.-32-13T>G Childhood or Adult Adult 20 years M 48 years - + 1 Italy
PubMed c.40_47del exon 10 c.1465G>A Classic infantile Classic infantile birth M 3 + - progressive deterioration / moderate periventricular white matter abnormalities 1 Italy
PubMed c.40_47del second mutation is not reported Classic infantile <12 months + 0
c.32G>A unknown 0
c.54C>T unknown 0
PubMed c.104T>C exon 2 c.266G>A Classic infantile Classic infantile 0-3 months F 3 months + 1 Germany
PubMed c.118C>T intron 1B c.-32-13T>G Childhood or Adult Adult 49 years F 64 years - - + - 1 France
PubMed c.118C>T exon 2 c.118C>T Classic infantile Classic infantile <5 months died at 11 months + 1 Pakistan
PubMed c.118C>T exon 2 c.118C>T Classic infantile unknown <1 year unknown 1 Portugal
PubMed c.118C>T intron 1B c.-32-13T>G Childhood or Adult Adult 40 years F 69 years - + at night - - + + 1 France
PubMed c.118C>T intron 18 c.2647-7G>A Adult Adult 35-53 years F (4)/ M (3) unknown + (6) + (7) + (7) + (6)/ND (1) 7 Italy
PubMed c.118C>T exon 2 c.546G>T Childhood or Adult Childhood 1 years F - - - - - 1 Japan
PubMed c.118C>T intron 1B c.-32-13T>G Childhood or Adult Adult 20 years F 77 years + Bent spine syndrome 1 France
PubMed c.118C>T intron 1B c.-32-13T>G Childhood or Adult Adult ranging 20 to 60 years 5 France
PubMed c.136T>C exon 2 c.18_25del Classic infantile Classic infantile at birth M 9 months + + 1 Brazil
PubMed c.147_859-12del exon 2 c.147_859-12del Classic infantile Classic infantile <1 year unknown 1 Afghan
PubMed c.147_859-12del exon 3 c.685_686insCGGC/ Asian pseudodeficiency allele Classic infantile Classic infantile 1.4 months M died at 14.7 months + - - 1 Asian
PubMed c.147_859-12del exon 3 c.685_686insCGGC Classic infantile Classic infantile <1 year 1 USA
PubMed c.169C>T exon 3 c.655G>A Classic infantile Childhood 3 years F 24 years - - - - - 1 Japan
PubMed c.172C>T exon 2 c.525del Classic infantile Classic infantile at birth M died at 14 months + + 1 Caucasian
PubMed c.172C>T intron 1B c.-32-13T>G Childhood or Adult Adult 23 male 15 1 Dutch
PubMed c.172C>T intron 1B c.-32-13T>G Childhood or Adult Childhood N.D. female 17 1 Dutch
c.186_196dup no combination/ no patient data reported 0
PubMed c.205C>T intron 1B c.-32-13T>G Childhood or Adult Childhood 9 years F 6 years 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