Identification of A Novel Mutation of SHORT Syndrome: A Case Report
ABSTRACT SHORT syndrome is a rare inherited disease with 34 identified pathogenic or likely pathogenic PIK3R1 mutations. The genotype–phenotype relationship remains inconsistent. Our case presents the first novel duplication that affects up to 25 nucleotides and truncates the PI3K protein, contribut...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2025-09-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.70820 |
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| _version_ | 1849224195253207040 |
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| author | Quynh Thi Vu Huynh Tuong Trong Luong Ho Tran Ban Van Tran |
| author_facet | Quynh Thi Vu Huynh Tuong Trong Luong Ho Tran Ban Van Tran |
| author_sort | Quynh Thi Vu Huynh |
| collection | DOAJ |
| description | ABSTRACT SHORT syndrome is a rare inherited disease with 34 identified pathogenic or likely pathogenic PIK3R1 mutations. The genotype–phenotype relationship remains inconsistent. Our case presents the first novel duplication that affects up to 25 nucleotides and truncates the PI3K protein, contributing valuable data to genetic understanding and characterization worldwide. |
| format | Article |
| id | doaj-art-1b480373bda94e6883c0eae2e3333ab9 |
| institution | Kabale University |
| issn | 2050-0904 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-1b480373bda94e6883c0eae2e3333ab92025-08-25T12:51:44ZengWileyClinical Case Reports2050-09042025-09-01139n/an/a10.1002/ccr3.70820Identification of A Novel Mutation of SHORT Syndrome: A Case ReportQuynh Thi Vu Huynh0Tuong Trong Luong1Ho Tran Ban2Van Tran3Department of Pediatrics University of Medicine and Pharmacy Ho Chi Minh City VietnamDepartment of Pediatrics University of Medicine and Pharmacy Ho Chi Minh City VietnamDepartment of Pediatric Surgery University of Medicine and Pharmacy Ho Chi Minh City VietnamMedical Genetics Institute VietnamABSTRACT SHORT syndrome is a rare inherited disease with 34 identified pathogenic or likely pathogenic PIK3R1 mutations. The genotype–phenotype relationship remains inconsistent. Our case presents the first novel duplication that affects up to 25 nucleotides and truncates the PI3K protein, contributing valuable data to genetic understanding and characterization worldwide.https://doi.org/10.1002/ccr3.70820endocrinology and metabolic disordersgenetics and genomicshealthcare managementpediatrics and adolescent medicine |
| spellingShingle | Quynh Thi Vu Huynh Tuong Trong Luong Ho Tran Ban Van Tran Identification of A Novel Mutation of SHORT Syndrome: A Case Report Clinical Case Reports endocrinology and metabolic disorders genetics and genomics healthcare management pediatrics and adolescent medicine |
| title | Identification of A Novel Mutation of SHORT Syndrome: A Case Report |
| title_full | Identification of A Novel Mutation of SHORT Syndrome: A Case Report |
| title_fullStr | Identification of A Novel Mutation of SHORT Syndrome: A Case Report |
| title_full_unstemmed | Identification of A Novel Mutation of SHORT Syndrome: A Case Report |
| title_short | Identification of A Novel Mutation of SHORT Syndrome: A Case Report |
| title_sort | identification of a novel mutation of short syndrome a case report |
| topic | endocrinology and metabolic disorders genetics and genomics healthcare management pediatrics and adolescent medicine |
| url | https://doi.org/10.1002/ccr3.70820 |
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