Pompe disease GAA variant database
Displaying 2301 - 2350 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.2228A>G exon 8 c.1239C>G Unknown (disease-associated) Childhood 15 years/unknown F/ F 15 years/13 years -/- -/- +/+ 2 UK
PubMed c.2234T>C second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.2235dup exon 16 c.2238G>C Childhood or Adult Childhood 1 years M 18 years 1 China
PubMed c.2236T>C exon 18 c.2560C>T Classic infantile Classic infantile 0.3 years M 2 years + - + + rapidly progressive muscle weakness 1 Colombia
PubMed c.2236T>C exon 18 c.2560C>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.2236T>C exon 5 c.915G>A Unknown (disease-associated) Childhood or Adult 1 USA
c.2236T>G no combination/ no patient data reported 0
PubMed c.2237G>C exon 16 c.2237G>A Classic infantile Childhood 1 year and 3 months F unknown + + 1 China
PubMed c.2237G>T second mutation is not reported Childhood <12 years - 1
PubMed c.2237G>A exon 2 c.378G>A Classic infantile Classic infantile 3.5 months F died at <18.7 months + 1 South China
PubMed c.2237G>A exon 2 c.503G>A Childhood Childhood 1.2 years/10 years F/ M 3 years/30 years +/- +/unknown 2 China
PubMed c.2237G>A exon 2 c.525del Classic infantile Classic infantile <6 months F unknown + 1 Italy
PubMed c.2237G>A exon 3 c.670C>T Classic infantile or Childhood Childhood 2 years M died at 4 years moderate left ventricular non-obstructive
hypertrophy/ Cardiac arhythmia 		+ 1 Italy
PubMed c.2237G>A exon 4 c.853C>T Childhood or Adult Childhood or Adult unknown >10 years - 1 USA
PubMed c.2237G>A exon 7 c.1128_1129delinsC Classic infantile Classic infantile <12 days F 36 months + - 1 Caucasian
PubMed c.2237G>A exon 12 c.1655T>C Classic infantile Classic infantile <2 months M unknown + 1 Italy
PubMed c.2237G>A second mutation is not reported Classic infantile unknown unknown 1 UK
PubMed c.2237G>A intron 1B c.-32-13T>G Childhood or Adult Childhood (2)/ Adult (5) 1-38 years F (3)/ M (4) 12-60y (6)/died at 40y (1) + (2)/- (5) + (6) + (3)/- (4) + (7) 7 Italy
PubMed c.2237G>A intron 17 c.2481+102_2646+31del Classic infantile Classic infantile 15 days M died at 1 year + - 1 Italy
PubMed c.2237G>A intron 1B c.-32-13T>G Childhood or Adult Adult 40 years/30 years F/ F 60 years/61 years +/+ +/+ +/+ 2 Caucasian
PubMed c.2237G>A exon 16 c.2237G>C Childhood Childhood 1 year and 3 months F unknown + + 1 China
PubMed c.2237G>A exon 2 c.503G>A Childhood Childhood 10 years M unknown + + 1 China
PubMed c.2237G>A exon 2 c.437del Classic infantile Classic infantile <1 year 1 USA
PubMed c.2237G>A exon 4 c.796C>A Childhood Childhood 13 years F 16 years 1 China
PubMed c.2237G>A intron 1B c.-32-13T>G Childhood or Adult Adult early adult/adult (2) 63 years/61 years/64 years +/+/+ 3 Italy
PubMed c.2237G>A intron 1B c.-32-13T>G Childhood or Adult Adult 29 years/41 years 58 years/41 years +/- 2 Italy
PubMed c.2237G>A exon 2 c.525del Classic infantile Classic infantile birth M 3 + Tracheostomy + + (no sitting position) 1 Italy
PubMed c.2237G>A exon 12 c.1655T>C Classic infantile Classic infantile 2 months M 4 months + Tracheostomy + 1 Italy
PubMed c.2237G>A exon 16 c.2237G>A Classic infantile Classic infantile <12 months + 0
PubMed c.2237G>A exon 16 c.2238G>C Childhood or Adult Childhood 1 years M 1 China
PubMed c.2238G>C exon 2 c.241C>T Unknown (disease-associated) Childhood (2)/ Adult (1) 16 years/12 years/27 years M/ F/ F 24y/31y/29y +/-/+ +/-/+ unknown/unknown/+ 3 China
PubMed c.2238G>C exon 2 c.444C>G Unknown (disease-associated) Adult 23 years F 28 years - + + + + 1 Malaysian Chinese
PubMed c.2238G>C exon 5 c.871C>T Unknown (disease-associated) Childhood 12 years M 12 years - 1 China
PubMed c.2238G>C exon 8 c.1320_1322del Unknown (disease-associated) Childhood 15 years F 25 years + + 1 China
PubMed c.2238G>C exon 9 c.1356del Unknown (disease-associated) Adult 21 years F 23 years + + 1 China
PubMed c.2238G>C exon 9 c.1396del Classic infantile Adult 24 years/23 years F/ F 30 years/28 years -/- 2 China
PubMed c.2238G>C intron 10 c.1551+3_1551+6del Unknown (disease-associated) Adult 23 years F 23 years + + 1 China
PubMed c.2238G>C exon 14 c.1935C>A Classic infantile Childhood unknown (2) unknown (2) 2 Taiwan
PubMed c.2238G>C exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Childhood unknown M NBS - 1 Taiwan
PubMed c.2238G>C exon 14 c.1935C>A Classic infantile Childhood (1)/ Adult (1) 6 years/23 years M/ F 14 years/32 years -/+ +/+ 2 China
PubMed c.2238G>C exon 16 c.2238G>C Childhood or Adult Childhood unknown unknown 1 Taiwan
PubMed c.2238G>C exon 19 c.2662G>T/ Asian pseudodeficiency allele Classic infantile Childhood 13-30 months M NBS - 1 Taiwan
PubMed c.2238G>C exon 16 c.2238G>C Childhood or Adult Childhood 17 years M 17 years - 1 China
PubMed c.2238G>C second mutation is not reported Childhood 10 years F 15 years - 1 China
PubMed c.2238G>C exon 17 c.2431del Unknown (disease-associated) Adult 25 years F 35 years + + 1 China
PubMed c.2238G>C exon 19 c.2662G>T Classic infantile Childhood 3 years F 17 years - 1 China
PubMed c.2238G>C exon 13 c.1822C>T Classic infantile Adult 41 years M 41 years - + + 1 South Korea
PubMed c.2238G>C exon 16 c.2235dup Classic infantile Childhood 1 years M 18 years 1 China
PubMed c.2238G>C exon 14 c.1935C>A Classic infantile Adult 26/21/32/34 years F/M/F/F 29/33/33/36 years +/+/+/+ -/-/-/+ 4 Hong Kong
PubMed c.2238G>C exon 8 c.1309C>T Childhood Childhood 16 years M 26 years - - 1 Hong Kong

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