Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. E...
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Elsevier
2025-02-01
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| author | Ivan William Harsono Yulia Ariani Beben Benyamin Fadilah Fadilah Dwi Ari Pujianto Cut Nurul Hafifah Titis Prawitasari |
| author_facet | Ivan William Harsono Yulia Ariani Beben Benyamin Fadilah Fadilah Dwi Ari Pujianto Cut Nurul Hafifah Titis Prawitasari |
| author_sort | Ivan William Harsono |
| collection | DOAJ |
| description | Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders. The non-specific clinical finding (phenotype) and identification of novel mutation adds the complexity of diagnosing and confirming rare disease. This often results in delayed diagnosis, typically 5.6 to 7.6 years later, with only 50% of cases being diagnosed, while the remaining cases are classified as undiagnosed rare diseases due to either the absence of identifiable potential variants or the presence of novel variants requiring further functional studies to confirm their pathogenicity. Proband and trio whole exome sequencing analysis remains a cost-effective and widely available method for diagnosing rare diseases detecting between 21 and 40% of cases. We present a trio (familial) exome sequences data from a patient with Glycogen Storage Disease IV from Indonesia. The clean and adapter trimmed FASTQ files of these sequences are available under BioProject accession number PRJNA1077459 with Sequence Read Archive accession numbers SRR27997290-SRR27997292. |
| format | Article |
| id | doaj-art-039d11e61d0641fc9bab537afda348d6 |
| institution | Kabale University |
| issn | 2352-3409 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Data in Brief |
| spelling | doaj-art-039d11e61d0641fc9bab537afda348d62025-01-31T05:11:35ZengElsevierData in Brief2352-34092025-02-0158111231Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)Ivan William Harsono0Yulia Ariani1Beben Benyamin2Fadilah Fadilah3Dwi Ari Pujianto4Cut Nurul Hafifah5Titis Prawitasari6Faculty of Medicine, Doctoral Program in Biomedical Sciences, Universitas Indonesia, Jakarta 10430, IndonesiaDepartment of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta 10430, Indonesia; Corresponding author.Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia; UniSA Allied Health and Human Performance, University of South Australia, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute (SAHMRI), University of South Australia, Adelaide, SA 5000, AustraliaDepartment of Medical Chemistry, Faculty of Medicine, Universitas Indonesia, Jalan Salemba Raya number 4, Jakarta 10430, Indonesia; Faculty of Medicine, Universitas Indonesia, Bioinformatics Core Facilities - IMERI, Jalan Salemba Raya number 6, Jakarta 10430, IndonesiaDepartment of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta 10430, IndonesiaDepartment of Child Health, Faculty of Medicine, Dr. Cipto Mangunkusumo Hospital, University of Indonesia, Jakarta 10430, IndonesiaDepartment of Child Health, Faculty of Medicine, Dr. Cipto Mangunkusumo Hospital, University of Indonesia, Jakarta 10430, IndonesiaGlycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders. The non-specific clinical finding (phenotype) and identification of novel mutation adds the complexity of diagnosing and confirming rare disease. This often results in delayed diagnosis, typically 5.6 to 7.6 years later, with only 50% of cases being diagnosed, while the remaining cases are classified as undiagnosed rare diseases due to either the absence of identifiable potential variants or the presence of novel variants requiring further functional studies to confirm their pathogenicity. Proband and trio whole exome sequencing analysis remains a cost-effective and widely available method for diagnosing rare diseases detecting between 21 and 40% of cases. We present a trio (familial) exome sequences data from a patient with Glycogen Storage Disease IV from Indonesia. The clean and adapter trimmed FASTQ files of these sequences are available under BioProject accession number PRJNA1077459 with Sequence Read Archive accession numbers SRR27997290-SRR27997292.http://www.sciencedirect.com/science/article/pii/S2352340924011934Homo sapiensRare diseaseWhole exome sequencingCipto mangunkusumo national hospitalJakartaIndonesia |
| spellingShingle | Ivan William Harsono Yulia Ariani Beben Benyamin Fadilah Fadilah Dwi Ari Pujianto Cut Nurul Hafifah Titis Prawitasari Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) Data in Brief Homo sapiens Rare disease Whole exome sequencing Cipto mangunkusumo national hospital Jakarta Indonesia |
| title | Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) |
| title_full | Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) |
| title_fullStr | Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) |
| title_full_unstemmed | Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) |
| title_short | Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) |
| title_sort | clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease iv in indonesia ncbi |
| topic | Homo sapiens Rare disease Whole exome sequencing Cipto mangunkusumo national hospital Jakarta Indonesia |
| url | http://www.sciencedirect.com/science/article/pii/S2352340924011934 |
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