Case#: Patient 7, Gender N/A, Onset 3-4 months. Death around 1-2 years, Southeast Asian

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: P:0001639. HP:0005165, HP:0001270, HP:0002240

(Dyspnea, Shortened PR interval, Motor delay, Hepatomegaly

CaseHPOFreeText: BVH, Severe MR, SDD, CK 550u/l, EF

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: Creatine Kinase enzyme 550u/l, Ejection fraction 30%, GAA enzyme activity in leukocytes was 0.05% of normal control value.

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

Variant 1: NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)

ClinVar: 188874

CAID: CA274067

gnomAD: Highest population MAF = 0.0002513 in East Asian

Variant 2: NM_000152.5(GAA):c.1933G>C (p.Asp645His)

ClinVar: 189013

CAID: CA274256

gnomAD: Highest population MAF = 0.00005534 (East Asian)

ParentalGenotype: Father was the carrier of variant 1 NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)

mother was carrier of variant 2 NM_000152.5(GAA):c.1933G>C (p.Asp645His)

PreviouslyPublished: N/A