A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report
Abstract Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the GBA gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the GBA gene in the Tunisian population. A female Arab patient was assessed at the age of 26 due to ab...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-05-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.5846 |
| _version_ | 1817986232140955648 |
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| author | Houweyda Jilani Faten Hsoumi Imen Rejeb Yasmina Elaribi Syrine Hizem Molka Sebai Arndt Rolfs Lamia Benjemaa |
| author_facet | Houweyda Jilani Faten Hsoumi Imen Rejeb Yasmina Elaribi Syrine Hizem Molka Sebai Arndt Rolfs Lamia Benjemaa |
| author_sort | Houweyda Jilani |
| collection | DOAJ |
| description | Abstract Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the GBA gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the GBA gene in the Tunisian population. A female Arab patient was assessed at the age of 26 due to abdominal distension, bone pain, and headache since she was 25. Physical examination revealed splenomegaly, rib deformation, lumbar scoliosis, and upper limb tremor. Bone marrow was infiltrated by Gaucher cells. The patient was homozygous for the rare p.Arg87Trp variant which is known to be associated with a mild phenotype. This report highlights the necessity of screening the Tunisian population for this rare variant. |
| first_indexed | 2024-04-14T00:07:46Z |
| format | Article |
| id | doaj.art-71e67b5153df45e58b6925c31be3b13c |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-14T00:07:46Z |
| publishDate | 2022-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-71e67b5153df45e58b6925c31be3b13c2022-12-22T02:23:28ZengWileyClinical Case Reports2050-09042022-05-01105n/an/a10.1002/ccr3.5846A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case reportHouweyda Jilani0Faten Hsoumi1Imen Rejeb2Yasmina Elaribi3Syrine Hizem4Molka Sebai5Arndt Rolfs6Lamia Benjemaa7Genetic Department Mongi Slim Hospital Marsa, Tunis TunisiaGenetic Department Mongi Slim Hospital Marsa, Tunis TunisiaGenetic Department Mongi Slim Hospital Marsa, Tunis TunisiaGenetic Department Mongi Slim Hospital Marsa, Tunis TunisiaGenetic Department Mongi Slim Hospital Marsa, Tunis TunisiaGenetic Department Mongi Slim Hospital Marsa, Tunis TunisiaCENTOGENE AG Rostock GermanyGenetic Department Mongi Slim Hospital Marsa, Tunis TunisiaAbstract Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the GBA gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the GBA gene in the Tunisian population. A female Arab patient was assessed at the age of 26 due to abdominal distension, bone pain, and headache since she was 25. Physical examination revealed splenomegaly, rib deformation, lumbar scoliosis, and upper limb tremor. Bone marrow was infiltrated by Gaucher cells. The patient was homozygous for the rare p.Arg87Trp variant which is known to be associated with a mild phenotype. This report highlights the necessity of screening the Tunisian population for this rare variant.https://doi.org/10.1002/ccr3.5846Gaucher diseaseGBA genep.Arg87TrpR48Wrare pathogenic variant |
| spellingShingle | Houweyda Jilani Faten Hsoumi Imen Rejeb Yasmina Elaribi Syrine Hizem Molka Sebai Arndt Rolfs Lamia Benjemaa A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report Clinical Case Reports Gaucher disease GBA gene p.Arg87Trp R48W rare pathogenic variant |
| title | A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report |
| title_full | A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report |
| title_fullStr | A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report |
| title_full_unstemmed | A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report |
| title_short | A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report |
| title_sort | rare homozygous p arg87trp variant of the gba gene in gaucher disease a case report |
| topic | Gaucher disease GBA gene p.Arg87Trp R48W rare pathogenic variant |
| url | https://doi.org/10.1002/ccr3.5846 |
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