Pompe disease GAA variant database
Displaying 1901 - 1950 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.1844G>A exon 13 c.1844G>A Classic infantile Classic infantile <12 months + 0
PubMed c.1846G>A exon 13 c.1814G>A Unknown (disease-associated) Childhood 6 years M 17 years - FVC: reduced to 41.0% - + 1 Japan
PubMed c.1847dup second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1848dup second mutation is not reported unknown <2 years unknown 1 unknown
c.1850T>C unknown 0
PubMed c.1856G>A exon 12 c.1655T>C Classic infantile Childhood 8-18 months F 23 months - + + 1 Greece
PubMed c.1856G>A second mutation is not reported Adult 52 years M 73 years - VC% in a sitting position 40% + 1 Caucasian
PubMed c.1856G>A exon 14 c.1927G>A Classic infantile Adult 61 years F 68 years - 1 Italy
PubMed c.1856G>A intron 1B c.[1856G>A; c.-32-13T>G] Classic infantile/ Childhood or Adult Classic infantile 7 months F 8 months + + + 1 Turkey
PubMed c.1857C>G exon 5 c.875A>G Classic infantile Childhood 6 months M 3.8-5.5 years + + + 1 Korea
PubMed c.1857C>G exon 7 c.1156C>T Unknown (disease-associated) Childhood 4-10 months M 4.9 years + + 1 Korea
PubMed c.1857C>G exon 14 c.2015G>A Classic infantile or Childhood Childhood 5-6 years M 27 years Mitral valve prolapse + + + + 1 Korea
PubMed c.1857C>G exon 12 c.1735G>A Classic infantile Childhood 2 years M 12 years mild cardiac hypertrophy - + + 1 Japan
PubMed c.1857C>G exon 13 c.1857C>G Classic infantile or Childhood Childhood 12 years M 21 years - + + + + + 1 Japan
PubMed c.1857C>G exon 13 c.1857C>G Classic infantile or Childhood Childhood 7 years M 15 years + at night + - 1 Japan
PubMed c.1857C>G exon 13 c.1857C>G Classic infantile or Childhood Classic infantile (1) / Childhood (2) 1 years/17 years/4 years M +/+/- -/+/- -/+/- -/+/- -/+/- 3 Japan
PubMed c.1857C>G exon 13 c.1798C>T Classic infantile Classic infantile (2) 10 months/1 month F/M +/+ +/- -/+ -/+ -/+ 2 Japan
PubMed c.1857C>G exon 8 c.1309C>T Childhood Adult 19 years F + + + + + 1 Japan
PubMed c.1857C>G exon 12 c.1735G>A Classic infantile Childhood 2 years M 20 years - - + + + 1 Japan
PubMed c.1857C>G Asian pseudodeficiency allele NBS NBS 1 Japan
PubMed c.1859C>A intron 17 c.2481+102_2646+31del Classic infantile Classic infantile 0-2 months F 2 months 1 Germany
c.1872C>T unknown 0
c.1879T>C no combination/ no patient data reported 0
PubMed c.1879_1881del second mutation is not reported Classic infantile <12 months + 1 Southern India
PubMed c.1880C>T intron 1B c.-32-13T>G Childhood or Adult Adult 27 years F 63 years + + + 1 Caucasian
PubMed c.1880C>T exon 2 c.525del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1880C>T intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.1880C>T intron 1B c.-32-13T>G Childhood or Adult Adult 30 years F 40 years 1 USA
PubMed c.1880C>T exon 2 c.525del Classic infantile Childhood NBS M NBS 1 USA
c.1886C>T unknown 0
PubMed c.1888+1G>A intron 1B c.-32-13T>G Childhood or Adult Adult 33 years 40 years - vital capacity in sitting/supine position: 3.91L/ 3,74L - - 1 France
PubMed c.1888+1G>A intron 13 c.1888+1G>A Unknown (disease-associated) unknown <2 years unknown 1 unknown
PubMed c.1888+1G>A intron 1B c.-32-13T>G Childhood or Adult asymptomatic asymptomatic F 43 years 1 France
PubMed c.1888+2_1888+15del second mutation is not reported Classic infantile <12 months + 1 Northern India
c.1888+21G>A not disease-associated 0
c.1889-27_2040+23del no combination/ no patient data reported 0
PubMed c.1895T>G exon 14 c.1895T>G Classic infantile Classic infantile 3 months 7 months + + 1 Thailand
PubMed c.1895T>G second mutation is not reported Childhood or Adult >12 years N.A. 1
PubMed c.1903A>G second mutation is not reported Childhood <12 years - 0
PubMed c.1905C>A intron 1B c.-32-3C>A Childhood Childhood 7 years M 15 years - + 1 Brazil
PubMed c.1905C>A exon 14 c.1905C>A Classic infantile Classic infantile at birth/at birth F/ M 4 months/ 8 months +/+ +/+ 2 Brazil
PubMed c.1905C>A exon 18 c.2501_2502del Classic infantile Classic infantile at birth M 4 months + + 1 Brazil
PubMed c.1912G>T exon 9 c.1364A>C Childhood unknown 2 months unknown 1 Spain
PubMed c.1912G>T exon 13 c.1829C>T Childhood Childhood 3 years F 7 years + + - - 1 Caucasian
PubMed c.1912G>T exon 13 c.1829C>T Childhood Childhood or Adult unknown >10 years - 1 USA
PubMed c.1912G>T intron 1B c.-32-13T>G Childhood or Adult Adult 30 years 50 years + 1 Germany
PubMed c.1912G>T intron 1B c.-32-13T>G Childhood or Adult Childhood 5 years unknown 1 Spain
PubMed c.1912G>T exon 14 c.1912G>T Classic infantile Classic infantile <2 months F unknown + 1 Italy
PubMed c.1912G>T exon 14 c.1913G>T Classic infantile Classic infantile at birth M 7 months + + 1 Brazil
PubMed c.1912G>T intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <1 year 1 USA

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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