A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b
| العنوان: | A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b |
|---|---|
| المؤلفون: | Chang-Seok Ki, Soo-Youn Lee, Sung-Hee Han, Kyung Hee Lee, Ji Eun Lee, Jong-Won Kim, Byong Kwan Son, Yon-Ho Choe, Young Jin Hong |
| المصدر: | Journal of Korean Medical Science |
| بيانات النشر: | Korean Academy of Medical Sciences, 2005. |
| سنة النشر: | 2005 |
| مصطلحات موضوعية: | medicine.medical_specialty, Monosaccharide Transport Proteins, DNA Mutational Analysis, Mutation, Missense, Case Report, Glycogen Storage Disease Type I, Biology, Compound heterozygosity, Short stature, Antiporters, Glucose-6-phosphate translocase, Internal medicine, medicine, Humans, Translocase, Glycogen storage disease, Missense mutation, SLC37A4 Gene, GSD-1b, Genetics, Korea, Glycogen Storage Disease Type 1, Base Sequence, Phosphotransferases, DNA, General Medicine, Glycogen Storage Disease, medicine.disease, Endocrinology, Genes, Mutation, Mutation (genetic algorithm), Mutation testing, biology.protein, medicine.symptom |
| الوصف: | We report a Korean patient with glycogen storage disease type 1b (GSD-1b) whose diagnosis was confirmed by liver biopsy and laboratory results. The patient presented with delay of puberty and short stature on admission and had typical clinical symptoms of GSD as well as chronic neutropenia and inflammatory bowel disease. Mutation analysis of the glucose 6-phosphate translocase 6-phosphate translocase (SLC37A4) gene revealed that the patient was a compound heterozygote of two different mutations including a deletion mutation (c.1042_1043delCT; L348fs) and a missense mutation (A148V). The L348fs mutation was inherited from the patient's father and has been reported in an Italian family with GSD-1b, while the A148V mutation was transmitted from the patient's mother and was a novel mutation. To the best of our knowledge, this is the first report of genetically confirmed case of GSD-1b in Korean. |
| تدمد: | 1011-8934 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72b63a4ce0570114c77737791f6e00faTest https://doi.org/10.3346/jkms.2005.20.3.499Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....72b63a4ce0570114c77737791f6e00fa |
| قاعدة البيانات: | OpenAIRE |
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