Pompe disease GAA variant database
Displaying 1701 - 1750 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.1655T>C intron 9 c.1438-1G>C Classic infantile Classic infantile <1 year 1 USA
PubMed c.1655T>C exon 2 c.525del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1655T>C exon 12 c.1655T>C Classic infantile Childhood Juvenile 1 USA
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.1655T>C exon 12 c.1655T>C Classic infantile Childhood asymptomatic M/M 2/1 2 Turkey
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult 56 years F 66 years - Bent spine syndrome 1 France
PubMed c.1655T>C exon 2 c.525_526del Classic infantile Classic infantile 0-19 months F 19 months 1 Germany
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult ranging 3 to 50 years 4 France
PubMed c.1655T>C exon 12 c.1655T>C Classic infantile Childhood 3 years F 4 years 1 France
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult M 59 years 1 USA
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult F 49 years 1 USA
PubMed c.1655T>C exon 2 c.236_246del Classic infantile Classic infantile 2 months M 3 months + - 1 Italy
PubMed c.1655T>C exon 16 c.2237G>A Classic infantile Classic infantile 2 months M 4 months + Tracheostomy + 1 Italy
PubMed c.1655T>C exon 16 c.2238G>C Childhood or Adult Childhood 9 years M 11 y + + (BiPAP) + + (assistive device) + 1 Caucasian
PubMed c.1655T>C exon 2 c.236_246del Classic infantile Classic infantile 0 months M 3m + 1 Italy
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult 34 36 1 Unknown
PubMed c.1657C>T exon 12 c.1657C>T Classic infantile Classic infantile 3days/ 2/1/2/6 months F/F/F/M/F/M 1/2/1/4/6/12 months + -/+/+/+/-/+ + + 6 Saudi Arabia
PubMed c.1666A>G exon 6 c.1064T>C/ Asian pseudodeficiency allele Classic infantile or Childhood Childhood 10-13 years/11 years F/ F 13 years/11 years -/- + at night/+ at night +/+ +/- +/+ +/- +/- 2 Portugal
PubMed c.1669A>T exon 9 c.1385T>C Classic infantile Classic infantile 8 months M died at 10 months + + 1 China
PubMed c.1669A>T exon 15 c.2132C>G Classic infantile Childhood 3 months/8 months F/ M 3 years/7 years +/+ +/+ 2 Korea
PubMed c.1669A>T Asian pseudodeficiency allele NBS NBS 1 Japan
PubMed c.1670T>G intron 1B c.-32-13T>G Childhood or Adult Asymptomatic Asymptomatic M 16 years - - - 1 Italy
PubMed c.1670T>G second mutation is not reported Childhood or Adult >12 years N.A. 1
c.1672T>A no combination/ no patient data reported 0
PubMed c.1673G>C intron 1B c.-32-13T>G Childhood or Adult Childhood 2 years M 17 years Mild left ventricular hypertrophy + - - - - + 1 Mexico
PubMed c.1681_1699dup second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1687C>T second mutation is not reported unknown <2 years unknown 1 unknown
PubMed c.1687C>T exon 4 c.722_723del Classic infantile Classic infantile 2 months M died at 4y,2m + + 1 Caucasian
PubMed c.1687C>T exon 4 c.722_723del Classic infantile Classic infantile <6 months <6 months + - 1 Caucasian
PubMed c.1687C>T exon 4 c.722_723del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1688A>T second mutation is not reported Childhood or Adult 1 France
PubMed c.1688A>T second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1694_1697del intron 1B c.-32-13T>G Childhood or Adult Adult 35 years F 37 years - - 1 Italy
PubMed c.1694_1697del intron 1B c.-32-13T>G Childhood or Adult Adult 28 years F 38 years - - - 1 Caucasian
PubMed c.1694_1697del intron 1B c.-32-13T>G Childhood or Adult Adult unknown 38 years + 1 Italy
PubMed c.1694_1697del intron 1B c.-32-13T>G Childhood or Adult Adult 34 years 44 years - 1 Italy
PubMed c.1696T>C exon 12 c.1696T>C Classic infantile Classic infantile shortly after birth <1 year + 1 Turkey
PubMed c.1696T>C exon 2 c.484A>C Classic infantile Classic infantile 4 months F +/+ +/+ +/- +/- -/- 2 Japan
PubMed c.1696T>C exon 2 c.460_465del Classic infantile Classic infantile 4 months/0 months F/F 4 months/0 months +/+ liver 6cm/1cm palpable. Spleen ok +/- +/- +/- +/- +/- -/- 2 Japan
PubMed c.1696T>C exon 2 c.483dup Classic infantile Classic infantile 4 months/0 months F/F 4 months/0 months +/+ liver 6cm/1cm palpable. Spleen ok +/- +/- +/- +/- +/- -/- 2 Japan
PubMed c.1703A>T exon 14 c.2014C>T Childhood or Adult Childhood 13 years F 38 years - FVC in sitting/ supine position 50/46% + 1 Germany
PubMed c.1704C>G exon 12 c.1655T>C Classic infantile Adult 22 years F 25 years - - - 1 Caucasian
PubMed c.1705dup exon 9 c.1396del Classic infantile Classic infantile <5 months F 44 months + 1 Hispanic
PubMed c.1710C>G exon 18 c.2560C>T Classic infantile Classic infantile <26 weeks M 6.9 months + - - 1 unknown
PubMed c.1710C>G exon 18 c.2560C>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.1716C>G exon 5 c.955_955+1ins21 Childhood Childhood 4 years 15 years - + + 1 Germany
PubMed c.1716C>G exon 8 c.1293_1312del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1716C>A second mutation is not reported Classic infantile <12 months + 1 Southern India
c.1717A>C no combination/ no patient data reported 0
PubMed c.1719C>A second mutation is not reported unknown <2 years unknown 2 Mexico

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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