Pompe disease GAA variant database
Displaying 2351 - 2400 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.2238G>C second mutation is not reported Adult >18 1 Belgium
PubMed c.2238G>C Asian pseudodeficiency allele (homozygous) NBS NBS 1 Japan
PubMed c.2238G>C exon 17 c.2297A>C Classic infantile Adult 22 years M 1 China
PubMed c.2238G>C exon 19 c.2662G>T Classic infantile Adult 21 years F 1 China
PubMed c.2238G>C exon 7 c.1156C>T Unknown (disease-associated) Childhood 5 years F 17 y, 5 m - + (hepatomegaly) - - Limb girdle weakness + 1 Korea
PubMed c.2238G>C exon 12 c.1655T>C Classic infantile Childhood 9 years M 11 y + + (BiPAP) + + (assistive device) + 1 Caucasian
PubMed c.2238G>C exon 15 c.2105G>A Classic infantile Adult 26 years F 1 China
PubMed c.2238G>C exon 16 c.2237G>A Classic infantile Childhood 1 years M 1 China
PubMed c.2238G>C exon 4 c.837G>C Unknown (disease-associated) Childhood 14 years M 1 China
PubMed c.2238G>A exon 13 c.1843G>A Classic infantile Classic infantile 1.6 months M 4.6 months + - - 1 Asian
PubMed c.2238G>A exon 13 c.1826dup Classic infantile Classic infantile <1 year 1 USA
PubMed c.2238G>A exon 13 c.1843G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.2238G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult/ Childhood Adult / Juvenile 2 USA
PubMed c.2238G>A intron 1B c.-32-13T>G Childhood or Adult Adult M 40 years 1 USA
PubMed c.2240G>A second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2242dup intron 7 c.1195-8G>A Childhood or Adult Childhood or Adult unknown >10 years - 1 USA
PubMed c.2242dup intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult unknown M unknown 1 Italy
PubMed c.2242dup second mutation is not reported Classic infantile unknown (2) unknown (2) 2 UK
PubMed c.2242dup exon 14 c.1933G>A Classic infantile Classic infantile unknown unknown 1 Celtic
PubMed c.2242dup intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 3 USA
PubMed c.2242dup intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.2242dup intron 1B c.-32-13T>G Childhood or Adult Childhood F 8 years 1 USA
c.2242G>T no combination/ no patient data reported 0
PubMed c.2255_2257del intron 1B c.-32-13T>G Childhood or Adult Childhood 3 years unknown 1 Spain
PubMed c.2261dup second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2261dup second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2269C>T exon 5 c.925G>A Classic infantile Classic infantile 4 months F 4 years,4 months + 1 Croatia
PubMed c.2269C>T intron 1B c.-32-13T>G Childhood or Adult Adult adulthood unknown 1 unknown
PubMed c.2269C>T intron 1B c.-32-13T>G Childhood or Adult Adult middle age F - 1 Serbian
PubMed c.2274dup exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Classic infantile 13 days M NBS + 1 Taiwan
PubMed c.2276G>C intron 18 c.2647-7G>A Adult Adult 56 years/ 54 years M/ M 66 years/57 years FVC 12,8/11% + 2 Italy
PubMed c.2281delinsAT intron 1B c.-32-13T>G Childhood or Adult Childhood 13 years M 16 years + + + 1 Germany
PubMed c.2281delinsAT intron 1B c.-32-13T>G Childhood or Adult Adult 18 years F 19 years + 1 Austria
c.2284G>A no combination/ no patient data reported 0
PubMed c.2294G>A second mutation is not reported Classic infantile <12 months + 0
PubMed c.2296T>A second mutation is not reported Classic infantile <12 months + 0
PubMed c.2297A>G exon 11 c.1561G>A Classic infantile or Childhood Childhood 1,5 years F 1-30 years + + + + 1 Germany
PubMed c.2297A>G exon 8 c.1309C>T Childhood Childhood 14 years M 21 years - - + + - 1 Japan
PubMed c.2297A>G exon 18 c.2560C>T Classic infantile Childhood or Adult 1 USA
PubMed c.2298_2301delinsAAAGTA intron 1B c.-32-13T>G Childhood or Adult Adult 42 years M 55 years 1 Italy
PubMed c.2298_2301delinsAAAGTA intron 1B c.-32-13T>G Childhood or Adult Adult 42 years F 58 years 1 Caucasian
PubMed c.2298_2301delinsAAAGTA intron 1B c.-32-13T>G Childhood or Adult Adult 46 years 63 years/61 years/64 years + 1 Italy
PubMed c.2300del second mutation is not reported unknown <2 years unknown 2 unknown
PubMed c.2303C>G exon 16 c.2303C>G Classic infantile Classic infantile shortly after birth <1 year + 1 Turkey
PubMed c.2303C>T exon 14 c.1935C>A Classic infantile Classic infantile 9 days M NBS + 1 Taiwan
PubMed c.2304del second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.2314T>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult unknown unknown 1 Caucasian
PubMed c.2314T>C intron 1B c.-32-13T>G Childhood or Adult Adult 26 29 1 Unknown
PubMed c.2320G>A second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.2322_2323insggtgagtctgcaaacggggagt intron 1B c.-32-13T>G Childhood or Adult Adult 50 years F 74 years - 1 Germany

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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