Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
PMID: 31510962
Gene:GAA
5 Matching Annotations
- Last 7 days
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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www-nature-com.libproxy.lib.unc.edu www-nature-com.libproxy.lib.unc.edu
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Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients
PMID: 31076647
Gene GAA
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84
Case#: 84, Gender N/A, 6 months old when diagnosed, Asian
DiseaseAssertion: Pompe disease
FamilyInfo: Both parents were tested for variants in GAA
CasePresentingHPOs: N/A
CaseHPOFreeText:N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: The patient did not present any symptoms, diagnosed was made based on the predicted impact of the variant 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 3.8 pmol/h/disk with a reference value of 6.5 pmol/h/disk
enzyme activity in fibroblast was recorded to be 3.0 nmol/h/mg protein.
Variants: Variant1: (Two mutated alleles with heterozygous mutations)
Variant1.1: NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
ClinVar: 346310
CAID: CA8815007
gnomAD: Highest population MAF = 0.002234 (East Asian)
Variant1.2: NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
ClinVar: 330447
CAID: CA8815009
gnomAD: Highest popu;ation MAF= 0.002235 (East Asians)
Variant2: C.1244C>T
ClinVar: N/A
CAID: N/A
gnomAD: N/A
ParentalGenotype: The c.752C>T+c.761C>T and c.1244C>T of subject ID 84 were derived from mother and father, respectively
PreviouslyPublished:N/A
Tags
- InheritancePattern:AutosomalRecessive
- PreviousTesting:GAAmeasurement
- ClinVarID:330447
- HGNC:4065
- CAID:CA8815007
- General
- CaseInfo
- CAID:CA8815009
- Zygosity:CompoundHeterozygous
- Gene:GAA
- inferred_gene_hgnc:4065
- inferred_gene_source:hgnc_tag
- ClinVarID:346310
- DiseaseEntity:PompeDisease
- GAA variant
- Individual
- gene: GAA
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
PMID: 30371346
Gene: GAA
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www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy
PMID: 30770309 Gene: GAA
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