Pompe disease GAA variant database
Displaying 2601 - 2650 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.2578G>A exon 18 c.2578G>A Unknown (disease-associated) Childhood (3) 15 years/12 years/7 years F/M/F -/-/- -/-/- -/-/- -/-/- -/-/- 3 Japan
PubMed c.2584G>A exon 14 c.1933G>A Classic infantile Childhood 5 years F 5 years 1 France
PubMed c.2584G>A second mutation is not reported Childhood <12 years - 1
PubMed c.2585del exon 20 c.2815_2816del Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Southern China
PubMed c.2596del intron 1B c.-32-13T>G Childhood or Adult Adult 38 years M 50 years - + + - 1 Iran
PubMed c.2600_2604delinsA exon 12 c.1655T>C Classic infantile unknown 6 months unknown 1 Spain
PubMed c.2605del intron 1B c.-32-13T>G Childhood or Adult Childhood 15 years M died at 57 years + + + + 1 Italy
PubMed c.2605del second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.2608C>T intron 1B c.-32-13T>G Childhood or Adult Childhood 3 months M 3-7 months - + (BI-PAP) + + (bed-ridden) + + 1 unknown
PubMed c.2608C>T exon 18 c.2608C>T Classic infantile Classic infantile at birth F 45 days + + 1 Brazil
PubMed c.2608C>T intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.2608C>T intron 1B c.-32-13T>G Childhood or Adult Adult NA F NA 1 Austria
PubMed c.2608C>T exon 14 c.1912G>T Classic infantile Classic infantile 3 months F 3 months + 1 USA
PubMed c.2608C>T intron 1B c.-32-13T>G Childhood or Adult Childhood Presymptomatic M/F 6/4 years 2 USA
PubMed c.2608C>T intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.2608C>T exon 18 c.2608C>T Classic infantile Classic infantile <12 months + 0
PubMed c.2608C>T second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.2608C>T intron 1B c.-32-13T>G Childhood or Adult Childhood 17 40 1 Unknown
PubMed c.2619C>G second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2636T>C second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.2639C>A intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <1 year <1.5 years + 1 Netherlands
PubMed c.2646_2646+1del intron 1B c.-32-13T>G Childhood or Adult Adult unknown M unknown - 1 Italy
PubMed c.2646+2T>A exon 3 c.573C>A Classic infantile Classic infantile 2.5-3 months F died at 4.5 months + + 1 Spain
PubMed c.2646+2T>A intron 7 c.1195-19_2190-20del Classic infantile Classic infantile 5 months unknown + + 1 El Salvador
PubMed c.2646+2T>A intron 17 c.2481+102_2646+31del Classic infantile Classic infantile 4 months unknown + + 1 Spain
PubMed c.2646+2T>A intron 1B c.-32-13T>G Childhood or Adult Childhood 13 years M 25 years 1 Brazil
PubMed c.2646+2T>A exon 14 c.1942G>A Classic infantile Classic infantile birth M 12d + - moderate periventricular white matter abnormalities 1 Italy
PubMed c.2646+2T>A intron 18 c.2646+2T>A Classic infantile Classic infantile 1 month F 4 months + - - - + - - - 1 Turkey
c.2646+39G>A not disease-associated 0
c.2647-71G>C not disease-associated 0
PubMed c.2647-23del exon 2 c.424_440del Unknown (found only in NBS) NBS NBS 1 Taiwan
PubMed c.2647-20T>G intron 1B c.-32-13T>G Childhood or Adult Childhood 14 years M 15 years + + 1 UK
PubMed c.2647-7G>A exon 2 c.118C>T Classic infantile Adult 35-53 years F (4)/ M (3) unknown + (6) + (7) + (7) + (6)/ND (1) 7 Italy
PubMed c.2647-7G>A exon 16 c.2276G>C Unknown (disease-associated) Adult 56 years/ 54 years M/ M 66 years/57 years FVC 12,8/11% + 2 Italy
PubMed c.2647-7G>A Asian pseudodeficiency allele NBS NBS 3 Japan
PubMed c.2655_2656del second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2655_2656del intron 1B c.-32-13T>G Childhood or Adult Adult (2) 30s years/58 years F/M 62 /65 years -/- -/ + (BiPAP) N.A./+ + (cane for long distance)/+ (walking stick occasionally) -/- 2 Caucasian
PubMed c.2662G>T intron 4 c.859-2A>T Classic infantile Classic infantile 4.9 months F died at <18.7 months + 1 South China
PubMed c.2662G>T exon 11 c.1574T>A Unknown (found only in NBS) unknown unknown F NBS - 1 Taiwan
PubMed c.2662G>T exon 11 c.1574T>A Unknown (found only in NBS) unknown unknown F NBS - 1 Taiwan
PubMed c.2662G>T exon 11 c.1634C>T Childhood or Adult Adult 28 years M 32 years - 1 China
PubMed c.2662G>T exon 16 c.2238G>C/ Asian pseudodeficiency allele Childhood or Adult Childhood 13-30 months M NBS - 1 Taiwan
PubMed c.2662G>T exon 14 c.1935C>A Classic infantile Classic infantile 2 months died at 12 months 1 Taiwan
PubMed c.2662G>T intron 1B c.-32-13T>G Childhood or Adult Childhood 12 years M 15 years - + + + + 1 Poland
PubMed c.2662G>T exon 19 c.2662G>T Classic infantile unknown <1 year unknown 1 Afghan
PubMed c.2662G>T intron 1B c.-32-13T>G Childhood or Adult Adult 32 years F 33 years - 1 China
PubMed c.2662G>T second mutation is not reported Childhood 9 years F 14 years - 1 China
PubMed c.2662G>T exon 13 c.1760T>C Classic infantile Classic infantile at birth F died at 1y,5m + 1 China
PubMed c.2662G>T exon 16 c.2238G>C Childhood or Adult Childhood 3 years F 17 years - 1 China
PubMed c.2662G>T exon 14 c.1927G>A Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China

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