Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review
Abstract Background Floating Harbor syndrome (FHS) is a rare genetic disorder with over 100 reported cases worldwide and less than 30 treated with recombinant human growth hormone (rhGH). This article reports the clinical characteristics of a child with FHS and the effect of rhGH on height increase....
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| Format: | Article |
| Language: | English |
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BMC
2025-02-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-025-05437-7 |
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| author | Qing He Yi Deng Lei Xu Zhe Xu Yi Ding Menghui Wu |
| author_facet | Qing He Yi Deng Lei Xu Zhe Xu Yi Ding Menghui Wu |
| author_sort | Qing He |
| collection | DOAJ |
| description | Abstract Background Floating Harbor syndrome (FHS) is a rare genetic disorder with over 100 reported cases worldwide and less than 30 treated with recombinant human growth hormone (rhGH). This article reports the clinical characteristics of a child with FHS and the effect of rhGH on height increase. Case summary The patient in this case exhibits the most typical features of FHS. Whole exome sequencing (WES) detected a pathogenic variant (c.7303 C > T, p.R2435X) in the SRCAP gene of this patient, which is a denovo variant. Has good sensitivity to rhGH treatment. The literature review included 28 children who received rhGH treatment, most of whom showed an increase in height SDS without any adverse reactions. Conclusion For patients with characteristic clinical manifestations, the diagnosis of FHS should be considered, and further pathogenic gene sequencing analysis should be performed to assist in the diagnosis. The genetic characteristic is a heterozygous nonsense mutation of the SRCAP gene. rhGH treatment is an effective treatment method for FHS. |
| format | Article |
| id | doaj-art-507cdabd45554c0f8e71387b9f65417e |
| institution | Kabale University |
| issn | 1471-2431 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj-art-507cdabd45554c0f8e71387b9f65417e2025-02-09T12:54:31ZengBMCBMC Pediatrics1471-24312025-02-012511810.1186/s12887-025-05437-7Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature reviewQing He0Yi Deng1Lei Xu2Zhe Xu3Yi Ding4Menghui Wu5Department of Children Healthcare, Guangyuan Central HospitalDepartment of Pediatrics, Guangyuan First People’s HospitalDepartment of Cardiovascular Medicine, Guangyuan Central HospitalDepartment of Pediatrics, Guangyuan Central HospitalDepartment of Pediatrics, Guangyuan Central HospitalDepartment of Pediatrics, Guangyuan First People’s HospitalAbstract Background Floating Harbor syndrome (FHS) is a rare genetic disorder with over 100 reported cases worldwide and less than 30 treated with recombinant human growth hormone (rhGH). This article reports the clinical characteristics of a child with FHS and the effect of rhGH on height increase. Case summary The patient in this case exhibits the most typical features of FHS. Whole exome sequencing (WES) detected a pathogenic variant (c.7303 C > T, p.R2435X) in the SRCAP gene of this patient, which is a denovo variant. Has good sensitivity to rhGH treatment. The literature review included 28 children who received rhGH treatment, most of whom showed an increase in height SDS without any adverse reactions. Conclusion For patients with characteristic clinical manifestations, the diagnosis of FHS should be considered, and further pathogenic gene sequencing analysis should be performed to assist in the diagnosis. The genetic characteristic is a heterozygous nonsense mutation of the SRCAP gene. rhGH treatment is an effective treatment method for FHS.https://doi.org/10.1186/s12887-025-05437-7Floating Harbor syndromeRecombinant human growth hormoneSRCAP |
| spellingShingle | Qing He Yi Deng Lei Xu Zhe Xu Yi Ding Menghui Wu Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review BMC Pediatrics Floating Harbor syndrome Recombinant human growth hormone SRCAP |
| title | Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review |
| title_full | Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review |
| title_fullStr | Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review |
| title_full_unstemmed | Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review |
| title_short | Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review |
| title_sort | recombinant human growth hormone treatment of floating harbor syndrome a case report and literature review |
| topic | Floating Harbor syndrome Recombinant human growth hormone SRCAP |
| url | https://doi.org/10.1186/s12887-025-05437-7 |
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