Pompe disease GAA variant database
Displaying 1501 - 1550 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.1441T>C intron 17 c.2481+102_2646+31del Classic infantile Classic infantile 0 months M 0 months + + 1 USA
PubMed c.1441T>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 2 USA
PubMed c.1441T>C intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 12 4 1 Unknown
PubMed c.1442G>A second mutation is not reported unknown <2 years unknown 1 African/Northern Europe
PubMed c.1445C>T exon 2 c.343C>T Childhood or Adult Childhood 2 years unknown + 1 Spain
c.1445C>G no combination/ no patient data reported 0
PubMed c.1445C>G intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 2 USA
PubMed c.1445C>G intron 1B c.-32-13T>G Childhood or Adult Adult 47 years M 58 years - + (BiPAP) + + (cane) - 1 Caucasian
PubMed c.1446del second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.1447G>A intron 1B c.-32-3C>A Childhood Childhood 10 years M 24 years - 1 Brazil
PubMed c.1447G>A exon 3 c.569G>A Childhood Childhood 15 years/unknown M/ M 25 years/23 years FVC in sitting/ supine position 75/65% / 57/48% -/+ +/+ 2 Caucasian
PubMed c.1447G>A intron 1B c.-32-17_-32-10delins30 Classic infantile Classic infantile <1 year 1 USA
PubMed c.1447G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.1447G>A exon 10 c.1447G>A Classic infantile Childhood <12 years + 0
PubMed c.1447G>A second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.1447G>A intron 1B c.-32-13T>G Childhood or Adult Adult 26 63 1 Unknown
PubMed c.1447G>T second mutation is not reported Childhood or Adult 1 France
c.1448G>T no combination/ no patient data reported 0
PubMed c.1456G>C intron 1B c.-32-13T>G Childhood or Adult Adult 21 years F 32 years - 1 Brazil
PubMed c.1456G>C exon 10 c.1456G>C Classic infantile Classic infantile 0-4.5 months F 4.5 months 1 Germany
PubMed c.1456G>T second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.1456_1468del exon 14 c.1941C>G Classic infantile Classic infantile <5 months F died at <2 years + 1 French-Canadian mother/ Portuguese-Scandinavian father.
PubMed c.1460T>C intron 1B c.-32-13T>G Childhood or Adult Adult 53 years M 73 years FVC in upright position 60% - - 1 Italy
c.1464dup exon 14 c.1927G>A Classic infantile Classic infantile <1 year died + 1 Unknown
PubMed c.1465G>A exon 2 c.307T>G Classic infantile Classic infantile <3 months M unknown + 1 Italy
PubMed c.1465G>A exon 2 c.506T>C Classic infantile Classic infantile at birth unknown + + 1 Spain
PubMed c.1465G>A exon 14 c.2014C>T Childhood or Adult Adult adulthood M unknown 1 Italy
PubMed c.1465G>A intron 1B c.-32-13T>G Childhood or Adult Adult adulthood M/ M unknown 2 Italy
PubMed c.1465G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 17 years M 53 years + + + 1 Caucasian
PubMed c.1465G>A exon 2 c.40_47del Classic infantile Classic infantile birth M 3 + - progressive deterioration / moderate periventricular white matter abnormalities 1 Italy
PubMed c.1465G>A second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.1465G>T exon 13 c.1827C>G Classic infantile Classic infantile 3 months M died at <18.7 months + + 1 Northern China
PubMed c.1466A>G second mutation is not reported unknown <2 years unknown 1 unknown
c.1468T>C no combination/ no patient data reported 0
PubMed c.1470C>A exon 10 c.1548G>A Classic infantile Childhood 6 years M 6,5 years + 1 Austria
PubMed c.1477C>T second mutation is not reported Childhood <12 years - 1
PubMed c.1478C>T exon 12 c.1655T>C Classic infantile Adult 27 years F 34 years - 1 Germany
PubMed c.1478C>T exon 2 c.525del Classic infantile Adult 36 years 57 years - + 7h/d + + - 1 Germany
PubMed c.1478C>T exon 7 c.1134C>G Unknown (disease-associated) Childhood 12,5 years F 13 years 1 Austria
PubMed c.1493G>A second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.1495T>A intron 1B c.-32-13T>G Childhood or Adult Childhood Childhood 32 years + 1 Germany
PubMed c.1495T>A intron 1B c.-32-13T>G Childhood or Adult Adult 32 years M 39 years - 1 Germany
PubMed c.1496G>A second mutation is not reported unknown <2 years unknown 2 unknown
PubMed c.1496G>A exon 10 c.1496G>A Classic infantile Classic infantile <12 months + 0
PubMed c.1497G>A exon 6 c.971C>T Childhood Childhood 2 years M 16 years - - - + + 1 North Africa
PubMed c.1497G>A exon 10 c.1497G>A Classic infantile Classic infantile birth M 5 days + - 1 Italy
PubMed c.1501_1515del second mutation is not reported Childhoor or Adult >12 years N.A. 0
PubMed c.1504A>G intron 1B c.-32-13T>G Childhood or Adult asymptomatic asymptomatic F 28 years 1 Italy
PubMed c.1507del second mutation is not reported Classic infantile <12 months + 0
PubMed c.1509_1511del exon 14 c.1935C>A Classic infantile Classic infantile 3 months died 1 Taiwan

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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