Pompe disease GAA variant database
Displaying 2201 - 2250 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.2104C>T intron 1B c.-32-13T>G Childhood or Adult Childhood 13 years 29 years - 1 Italy
PubMed c.2104C>T exon 15 c.2104C>T Classic infantile Classic infantile <12 months + 0
PubMed c.2104C>T intron 1B c.-32-13T>G Childhood or Adult Childhood 14 years F 24 y - - N.A. + (assistive device) - 1 Caucasian
PubMed c.2104C>T intron 1B c.-32-13T>G Childhood or Adult Adult 50 65 1 Unknown
PubMed c.2105G>A exon 4 c.796C>T Classic infantile Childhood 1 year and 9 months M unknown + - + 1 China
PubMed c.2105G>A exon 14 c.1924G>T Classic infantile Classic infantile at birth F died at 1y,10m + + + 1 China
PubMed c.2105G>A exon 18 c.2512C>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.2105G>A exon 17 c.2297A>C Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Southern China
PubMed c.2105G>A exon 16 c.2238G>C Childhood or Adult Adult 26 years F 1 China
PubMed c.2105G>T second mutation is not reported unknown <2 years unknown 1 African American
PubMed c.2105G>T exon 18 c.2512C>T Classic infantile Classic infantile at birth/at birth M/ M 10 months/ 3 weeks +/+ 2 African American
PubMed c.2105G>T exon 13 c.1798C>T Classic infantile Classic infantile <1 year 9.5 months + - - 1 UK
PubMed c.2109del second mutation is not reported Childhood or Adult 1 France
PubMed c.2109del second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.2114T>C intron 1B c.-32-13T>G Childhood or Adult Adult 42 years/34 years 46 years/36 years +/+ -/Neurological changes 2 Brazil
PubMed c.2131A>C second mutation is not reported Classic infantile <12 months + 1 Northern India
PubMed c.2132C>G exon 12 c.1669A>T Classic infantile Childhood 3 months/8 months F/ M 3 years/7 years +/+ +/+ 2 Korea
PubMed c.2132C>G exon 15 c.2167G>A Childhood Childhood 2 years F died at 10 years - - + - - 1 China
PubMed c.2132C>G exon 14 c.2024A>G Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
c.2133A>G not disease-associated 0
c.2133A>G not disease-associated 0
PubMed c.2135T>C intron 1B c.-32-13T>G Childhood or Adult Adult 32 years M 63 years + + - - 1 unknown
PubMed c.2135T>C intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 0.7 male 2 + 1 Dutch
PubMed c.2135T>C intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 0.8 female 0 1 Dutch
PubMed c.2135T>C intron 1B c.-32-13T>G Childhood or Adult Childhood 16 19 1 Unknown
PubMed c.2136_2137del intron 1B c.-32-13T>G Childhood or Adult Adult 40 years M 40-44 years + + - - 1 Germany
PubMed c.2140del exon 11 c.1561G>A Classic infantile or Childhood unknown at birth unknown 1 Caucasian
PubMed c.2140del intron 1B c.-32-13T>G Childhood or Adult Adult F 79 1 USA
PubMed c.2146G>C second mutation is not reported Childhood <12 years - 1
c.2152G>A unknown 0
PubMed c.2153_2156delinsACGCCG second mutation is not reported Childhood <12 years - 1
c.2154C>T unknown 0
c.2161dup no combination/ no patient data reported 0
PubMed c.2161G>T exon 11 c.1561G>A Classic infantile or Childhood Childhood 12 years F 24 years + + 1 China
c.2161G>T no combination/ no patient data reported 0
PubMed c.2167G>A exon 15 c.2132C>G Classic infantile Childhood 2 years F died at 10 years - - + - - 1 China
PubMed c.2167G>A intron 2 c.547-1G>C Unknown (disease-associated) Childhood 1 years M - - + + + 1 Japan
PubMed c.2171C>A exon 8 c.1322_1326+9del Classic infantile Classic infantile 3 months F 8 months + + 1 Korea
PubMed c.2171C>A exon 2 c.546G>T Childhood or Adult Childhood 17 years unknown - - - - - + 1 Korea
PubMed c.2171C>A exon 8 c.1322_1326+9del Classic infantile Classic infantile 5 months F 9 months + + (hepatomegaly) + (at 1 y) + 1 Korea
PubMed c.2173C>T intron 1B c.-32-3C>A Childhood Childhood 12 years F 23 years + 1 Brazil
PubMed c.2173C>T intron 6 c.1076-1G>C Classic infantile Childhood 3 years/3 years unknown (2) +/- -/+ 2 Spain
PubMed c.2173C>T intron 10/intron 10 c.[1551+1G>A; c.1551+1G>A] Unknown (disease-associated)/ Unknown (disease-associated) Childhood 14 years M 40 years + + + + 1 France
PubMed c.2173C>T intron 1B c.-32-13T>G Childhood or Adult Adult unknown 44 years 1 Spain
PubMed c.2173C>T exon 14 c.1927G>A Classic infantile Adult 22 years F 35 years - + at night + - + 1 UK
PubMed c.2173C>T exon 3 c.573C>A Classic infantile Childhood NA/ 16 years F/F 3 years /1 years 2 France
PubMed c.2174G>C exon 14 c.1935C>A Classic infantile Classic infantile 5 months died at 15 months 1 Taiwan
PubMed c.2174G>A exon 3 c.664G>A Unknown NBS NBS 1 Hungary
PubMed c.2177C>G exon 8 c.1309C>T Childhood Childhood 1-2 years and 4 months F 2 years,4 months - + - - 1 Japan
PubMed c.2177C>G exon 8 c.1309C>T Childhood Childhood 1 years F - + - - - 1 Japan

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