Case#: 93, gender N/A, 6months old when diagnosed, Asian

DiseaseAssertion: Pompe disease

FamilyInfo: Both parents were carriers of mutations in the GAA gene. The patient inherited the mutations.

CasePresentingHPOs: N/A

CaseHPOFreeText: Symptoms were noted at the age of 2.7 months old

CaseNotHPOs: N/A

CaseNotHPOFreeText: The patient showed no symptoms but LOPD was diagnosed based on the predicted impact of the variants by PolyPhen-2

CasePreviousTesting: The GAA gene was sequenced using NGS and resequenced for confirmation using Sanger.

Dried Blood spot test found an GAA activity of 0.25 pmol/h/disk with a reference value of 6.5 pmol/h/disk

Variant1: NM_000152.5(GAA):c.317G>A (p.Arg106His)

ClinVar: 286481

CAID: CA8814849

gnomAD: MAF=0.0001094 in East Asian

Variant2: (COMBINATION OF MUTATIONS IN THIS ALLELE, DOUBT HERE)

Variant2.1: NM_000152.5(GAA):c.752C>T (p.Ser251Leu)

ClinVar: 346310

CAID: CA8815007

gnomAD: Highest population MAF = 0.002234 (East Asian)

Variant2.2: NM_000152.5(GAA):c.761C>T (p.Ser254Leu)

ClinVar: 330447

CAID: CA8815009

gnomAD: Highest population MAF= 0.002235 (East Asians)

ParentalGenotype: Father is heterozygous for c.317G>A (p.Arg106His).

Mother carries both mutations of c.[752C>T,761C>T].

PreviouslyPublished:N/A