Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review
Abstract Background Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.3 microduplication and nov...
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BMC
2025-01-01
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| Online Access: | https://doi.org/10.1186/s12887-025-05394-1 |
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| author | Wenjie Sun Hong Yan Mengxin Sun Jie Wang Kunxia Li |
| author_facet | Wenjie Sun Hong Yan Mengxin Sun Jie Wang Kunxia Li |
| author_sort | Wenjie Sun |
| collection | DOAJ |
| description | Abstract Background Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.3 microduplication and novel clinical findings, specifically nephrotic syndrome. Case presentations A 4-year-old girl was admitted to our hospital in December 2020 with a fever and cough that had persisted for 3 days. A series of treatments, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were performed. Relevant literature was reviewed using the search terms “19p13.3” and “19p13.3 microduplication syndrome” in the China Knowledge Network, Wanfang Database, Weipu Journal Service Platform, and PubMed (date range: database establishment to September 2023). In addition to common symptoms, such as developmental delay, microcephaly, distinctive facial features, and congenital heart defects, the patient also had nephrotic syndrome, a previously unreported phenomenon. CMA results showed a 3.6 Mb fragment duplication (copy number: 3) in the chr19p13.3 region, containing 127 protein-coding genes (including CELF5, NFIC, SMIM24, PIAS4, ATCAY, MAP2K2, and ZBTB7A). WES revealed a filamin C mutation (p.Glu309Valfs × 11). The mutation status of the patient and her father was heterozygous, whereas the mutation was not detected in the mother. Conclusion Microduplication in the 19p13.3 region could be one of the genetic factors contributing to the observed clinical phenotypes. However, patients with developmental delay, microcephaly, distinctive facial features, congenital heart defects, and urogenital system disorders may exhibit these manifestations due to various genetic syndromes; therefore, simply considering the possibility of 19p13.3 microduplication syndrome based on these non-specific features is not sufficient. Further comprehensive evaluations, including CMA, should be conducted in conjunction with other genetic tests and detailed clinical examinations to accurately determine the underlying genetic causes. |
| format | Article |
| id | doaj-art-0887d1188ef7445da63e701428c0020b |
| institution | Kabale University |
| issn | 1471-2431 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj-art-0887d1188ef7445da63e701428c0020b2025-02-02T12:42:56ZengBMCBMC Pediatrics1471-24312025-01-0125111110.1186/s12887-025-05394-1Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature reviewWenjie Sun0Hong Yan1Mengxin Sun2Jie Wang3Kunxia Li4Pediatric Internal Medicine, Yantai Yuhuangding HospitalPediatric Internal Medicine, Yantai Yuhuangding HospitalPediatric Internal Medicine, Yantai Yuhuangding HospitalPediatric Internal Medicine, Yantai Yuhuangding HospitalPediatric Internal Medicine, Yantai Yuhuangding HospitalAbstract Background Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.3 microduplication and novel clinical findings, specifically nephrotic syndrome. Case presentations A 4-year-old girl was admitted to our hospital in December 2020 with a fever and cough that had persisted for 3 days. A series of treatments, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were performed. Relevant literature was reviewed using the search terms “19p13.3” and “19p13.3 microduplication syndrome” in the China Knowledge Network, Wanfang Database, Weipu Journal Service Platform, and PubMed (date range: database establishment to September 2023). In addition to common symptoms, such as developmental delay, microcephaly, distinctive facial features, and congenital heart defects, the patient also had nephrotic syndrome, a previously unreported phenomenon. CMA results showed a 3.6 Mb fragment duplication (copy number: 3) in the chr19p13.3 region, containing 127 protein-coding genes (including CELF5, NFIC, SMIM24, PIAS4, ATCAY, MAP2K2, and ZBTB7A). WES revealed a filamin C mutation (p.Glu309Valfs × 11). The mutation status of the patient and her father was heterozygous, whereas the mutation was not detected in the mother. Conclusion Microduplication in the 19p13.3 region could be one of the genetic factors contributing to the observed clinical phenotypes. However, patients with developmental delay, microcephaly, distinctive facial features, congenital heart defects, and urogenital system disorders may exhibit these manifestations due to various genetic syndromes; therefore, simply considering the possibility of 19p13.3 microduplication syndrome based on these non-specific features is not sufficient. Further comprehensive evaluations, including CMA, should be conducted in conjunction with other genetic tests and detailed clinical examinations to accurately determine the underlying genetic causes.https://doi.org/10.1186/s12887-025-05394-1Duplication19p13.3Nephrotic syndromeChromosome microarray analysis |
| spellingShingle | Wenjie Sun Hong Yan Mengxin Sun Jie Wang Kunxia Li Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review BMC Pediatrics Duplication 19p13.3 Nephrotic syndrome Chromosome microarray analysis |
| title | Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review |
| title_full | Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review |
| title_fullStr | Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review |
| title_full_unstemmed | Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review |
| title_short | Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review |
| title_sort | expanding the clinical spectrum of 19p13 3 microduplication syndrome a case report highlighting nephrotic syndrome and literature review |
| topic | Duplication 19p13.3 Nephrotic syndrome Chromosome microarray analysis |
| url | https://doi.org/10.1186/s12887-025-05394-1 |
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