A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India
| العنوان: | A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India |
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| المؤلفون: | Tim M. Strom, Shruti Gupta, Radhika Srinivasan, Bettina Lorenz-Depiereux, Rajesh Kumar, Devi Dayal |
| المصدر: | Intractable & Rare Diseases Research. 10:55-57 |
| بيانات النشر: | International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA), 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Sanger sequencing, Proband, Pathology, medicine.medical_specialty, business.industry, General Medicine, 030105 genetics & heredity, medicine.disease, Calcinosis cutis, 03 medical and health sciences, symbols.namesake, Exon, Hyperphosphatemia, 0302 clinical medicine, medicine, symbols, Tumoral calcinosis, business, Gene, 030217 neurology & neurosurgery, Calcification |
| الوصف: | Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disorder caused by variants in the GALNT3 (N-acetylgalactosaminyltransferase 3), FGF23 (Fibroblast Growth Factor-23) and αKL (α-Klotho) genes, which results in progressive calcification of soft tissues. We describe the case of a 9-year-old girl who presented with recurrent hard nodular swellings on her feet and knees which intermittently discharged chalky white material. Her younger brother also had a similar condition. Both siblings showed hyperphosphatemia, but the parentsbiochemical parameters were normal. The histological features of the material aspirated from a skin lesion were consistent with tumoral calcinosis. Sanger sequencing identified a novel homozygous non-synonymous sequence variant in exon 10 of the GALNT3 gene (NM_004482.3:c.[1681T>A];[1681T>A], NP_004473.2:p. [Cys561Ser];[Cys561Ser] in the proband and her affected brother. The parents were heterozygous carriers for the same sequence variant. In conclusion, we report a new variant in the GALNT3 gene that caused HFTC in a North Indian family. |
| تدمد: | 2186-361X 2186-3644 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::b1455cb76a150a612702c0aae5f087aaTest https://doi.org/10.5582/irdr.2020.03084Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi...........b1455cb76a150a612702c0aae5f087aa |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2186361X 21863644 |
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