Case#: Patient 12, Gender N/A, Onset at 3-4 months old, Southeast Asian

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001252, HP:0002090, HP:0002878, HP:0005165

(Hypotonia, Pneumonia, Respiratory failure, Shortened PR interval)

CaseHPOFreeText: Failed endotracheal extubation, BVH, mild sub-aortic obstruction, SDD, Ejection fraction 13%, creatine kinase levels 966 u/l

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: GAA enzyme activity in leukocytes was 0.10% of normal control value.

PCR of all exons was performed and subsequently subjected to capillary Sanger sequencing in both directions

Variant 1: c.1327-2A>G

ClinVar: N/A

CAID: CA401366177

gnomAD: Highest population MAF = 0.0002297 (African)

Variant 2: c.1437G>C (p.Lys479Asn)

ClinVar: N/A

CAID: CA401366671

gnomAD: N/A

ParentalGenotype: Mother was the carrier of variant 1 c.1327-2A>G

Father was the carrier of variant 2 c.1437G>C (p.Lys479Asn)

PreviouslyPublished: