Pompe disease GAA variant database
Displaying 2401 - 2450 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.2326C>T exon 8 c.1309C>T Childhood Childhood <7 years/<7 years F/ F 11 years/10 years + at night/+ at night +/+ -/- -/- +/+ +/+ 2 Japan
PubMed c.2331+1G>A intron 1B c.-32-13T>G Childhood or Adult Adult unknown M/ F 31 years/40 years -/- -/- FVC 83/102% -/- -/- 2 Italy
PubMed c.2331+2T>C intron 16 c.2331+2T>C Classic infantile Classic infantile unknown unknown 1 South Africa
PubMed c.2331+2T>C intron 16 c.2331+2T>C Classic infantile unknown prenatal died + 1 Italy
PubMed c.2331+2T>A intron 16 c.2331+2T>A Classic infantile unknown <2 years unknown 1 unknown
PubMed c.2331+2T>A intron 1B c.-32-13T>G Childhood or Adult Childhood 2.5 years/5 years M/ F 13 years/7.8 years -/- FVC in sitting/ supine position 66/54% / 108/104% -/- MRC 84%/MRC 100% 2 Caucasian
PubMed c.2331+2T>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult unknown unknown 1 Caucasian
PubMed c.2331+2T>A intron 1B c.-32-13T>G Childhood or Adult Adult young adult M - 1 German
PubMed c.2331+2T>A CCDC40 and GAA exon 1 Ch37/hg19 chr17:78,059,821_ 78,076,592del Classic infantile Classic infantile <1 month + 1 Netherlands
PubMed c.2331+2T>A intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 2.5 3 1 Unknown
PubMed c.2331+2T>A intron 1B c.-32-13T>G Childhood or Adult Childhood 5 7.7973990417522 1 Unknown
PubMed c.2331+4A>G exon 2 c.271del Unknown (disease-associated) Adult 53 years M 60 years - + 1 Greece
PubMed c.2331+5G>C second mutation is not reported Classic infantile <12 months + 1 Southern India
c.2331+20G>A not disease-associated 0
c.2331+24T>C not disease-associated 0
PubMed c.2331+102del second mutation is not reported Childhood or Adult >12 years N.A. 1
c.2331+151C>T not disease-associated 0
c.2332-198A>T not disease-associated 0
PubMed c.2334_2335dup second mutation is not reported Childhood or Adult 1 France
c.2338G>A not disease-associated 0
c.2357dup no combination/ no patient data reported 0
PubMed c.2373_2376delinsTGCTCA second mutation is not reported/ Asian pseudodeficiency allele NBS unknown M NBS 1 Taiwan
PubMed c.2377_2378insAC exon 9 c.1411_1414del Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Southern China
PubMed c.2380del exon 14 c.1935C>A Classic infantile Classic infantile 2 months died at 31 months 1 Taiwan
PubMed c.2380del exon 14 c.1935C>A Classic infantile unknown unknown unknown 1 China
PubMed c.2380dup intron 1B c.-32-13T>G Childhood or Adult Childhood 15 years M 15,5 years 1 Austria
PubMed c.2385del exon 14 c.2014C>T Childhood or Adult Childhood or Adult unknown >10 years - 1 USA
c.2395C>G no combination/ no patient data reported 0
PubMed c.2395C>T second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.2407_2412del exon 8 c.1316T>A Classic infantile Childhood 1-6 months F 3.8-5.5 years + + 1 Korea
PubMed c.2407C>T second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2408_2426del second mutation is not reported unknown <2 years unknown 1 Caucasian
PubMed c.2411G>A exon 13 c.1802C>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.2431dup intron 1B c.-32-13T>G Childhood or Adult Adult 22 years 35 years + 1 Germany
PubMed c.2431dup exon 17 c.2431dup Classic infantile Classic infantile 0-9 months F 9 months 1 Germany
PubMed c.2431del exon 16 c.2238G>C Childhood or Adult Adult 25 years F 35 years + + 1 china
PubMed c.2431del intron 1B c.-32-13T>G Childhood or Adult Adult 30s M 48 years - - N.A. + (assistive device) - 1 Caucasian
PubMed c.2432del exon 8 c.1210G>A Classic infantile Classic infantile 5 days M 2 months + 1 Argentinean Caucasian
PubMed c.2432del exon 12 c.1655T>C Classic infantile Classic infantile <8 months M unknown + 1 Italy
PubMed c.2432del second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.2439dup second mutation is not reported unknown <2 years unknown 1 African/Northern Europe
c.2446G>A not disease-associated 0
PubMed c.2456G>C second mutation is not reported unknown <2 years unknown 4 Middle Eastern
PubMed c.2459_2461del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.2459_2461del exon 18 c.2560C>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.2459_2461del second mutation is not reported Classic/ Childhood or Adult <12 months/ >12 years +, N.A. 1
PubMed c.2460dup second mutation is not reported Childhood or Adult 1 France
PubMed c.2460dup second mutation is not reported Childhood <12 years - 1
PubMed c.2474C>G exon 14 c.2014C>T Childhood or Adult Childhood or Adult 1 USA
PubMed c.2480A>G second mutation is not reported Childhood <12 years - 1

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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