Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants
BackgroundThis study aimed to characterize the clinical phenotype and genetic variations in patients with Kallmann syndrome (KS).MethodsThis study involved the collection and analysis of clinical data from an individual with sporadic KS. Following this, peripheral blood samples were obtained from th...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-04-01
|
| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2024.1343977/full |
| _version_ | 1827298600880701440 |
|---|---|
| author | Jianmei Zhang Suhong Yang Yan Zhang Fei Liu Lili Hao Lianshu Han |
| author_facet | Jianmei Zhang Suhong Yang Yan Zhang Fei Liu Lili Hao Lianshu Han |
| author_sort | Jianmei Zhang |
| collection | DOAJ |
| description | BackgroundThis study aimed to characterize the clinical phenotype and genetic variations in patients with Kallmann syndrome (KS).MethodsThis study involved the collection and analysis of clinical data from an individual with sporadic KS. Following this, peripheral blood samples were obtained from the patient and his parents. Genomic deoxyribonucleic acid was extracted and subjected to whole-exome sequencing and genomic copy number variation (CNV) detection. Finally, Sanger sequencing was performed to validate the suspected pathogenic variants.ResultsWhole-exome sequencing confirmed that the child carried both the IL17RD variant (c.2101G>A, p.Gly701Ser) inherited from the mother and the new CPEB4 variant (c.1414C>T, p.Arg472*). No pathogenic CNVs were identified in CNV testing.ConclusionBioinformatics analysis shows that the IL17RD protein undergoing Gly701Ser mutation and is speculated to be phosphorylated and modified, thereby disrupting fibroblast growth factor signaling. This study also suggested that the CPEB4 might play a crucial role in the key signaling process affecting olfactory bulb morphogenesis. Overall, the findings of this study broaden the gene expression profile of KS-related pathogenic genes. This offers a new avenue for exploring the pathogenic mechanism of KS and provides valuable insights for precise clinical diagnosis and treatment strategies for this condition. |
| first_indexed | 2024-04-24T15:17:38Z |
| format | Article |
| id | doaj.art-e990803c73d843c4877c8d742dbbe500 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-04-24T15:17:38Z |
| publishDate | 2024-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-e990803c73d843c4877c8d742dbbe5002024-04-02T09:10:49ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922024-04-011510.3389/fendo.2024.13439771343977Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variantsJianmei Zhang0Suhong Yang1Yan Zhang2Fei Liu3Lili Hao4Lianshu Han5Department of Pediatric Endocrinology and Genetics, Hangzhou Children’s Hospital, Hangzhou, Zhejiang, ChinaDepartment of Pediatric Endocrinology and Genetics, Hangzhou Children’s Hospital, Hangzhou, Zhejiang, ChinaDepartment of Pediatric Endocrinology and Genetics, Hangzhou Children’s Hospital, Hangzhou, Zhejiang, ChinaDepartment of Pediatric Endocrinology and Genetics, Hangzhou Children’s Hospital, Hangzhou, Zhejiang, ChinaDepartment of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaDepartment of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaBackgroundThis study aimed to characterize the clinical phenotype and genetic variations in patients with Kallmann syndrome (KS).MethodsThis study involved the collection and analysis of clinical data from an individual with sporadic KS. Following this, peripheral blood samples were obtained from the patient and his parents. Genomic deoxyribonucleic acid was extracted and subjected to whole-exome sequencing and genomic copy number variation (CNV) detection. Finally, Sanger sequencing was performed to validate the suspected pathogenic variants.ResultsWhole-exome sequencing confirmed that the child carried both the IL17RD variant (c.2101G>A, p.Gly701Ser) inherited from the mother and the new CPEB4 variant (c.1414C>T, p.Arg472*). No pathogenic CNVs were identified in CNV testing.ConclusionBioinformatics analysis shows that the IL17RD protein undergoing Gly701Ser mutation and is speculated to be phosphorylated and modified, thereby disrupting fibroblast growth factor signaling. This study also suggested that the CPEB4 might play a crucial role in the key signaling process affecting olfactory bulb morphogenesis. Overall, the findings of this study broaden the gene expression profile of KS-related pathogenic genes. This offers a new avenue for exploring the pathogenic mechanism of KS and provides valuable insights for precise clinical diagnosis and treatment strategies for this condition.https://www.frontiersin.org/articles/10.3389/fendo.2024.1343977/fullKallmann syndromedelayed pubertal developmentgene variantIL17RDCPEB4 |
| spellingShingle | Jianmei Zhang Suhong Yang Yan Zhang Fei Liu Lili Hao Lianshu Han Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants Frontiers in Endocrinology Kallmann syndrome delayed pubertal development gene variant IL17RD CPEB4 |
| title | Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants |
| title_full | Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants |
| title_fullStr | Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants |
| title_full_unstemmed | Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants |
| title_short | Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants |
| title_sort | clinical phenotype of a kallmann syndrome patient with il17rd and cpeb4 variants |
| topic | Kallmann syndrome delayed pubertal development gene variant IL17RD CPEB4 |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2024.1343977/full |
| work_keys_str_mv | AT jianmeizhang clinicalphenotypeofakallmannsyndromepatientwithil17rdandcpeb4variants AT suhongyang clinicalphenotypeofakallmannsyndromepatientwithil17rdandcpeb4variants AT yanzhang clinicalphenotypeofakallmannsyndromepatientwithil17rdandcpeb4variants AT feiliu clinicalphenotypeofakallmannsyndromepatientwithil17rdandcpeb4variants AT lilihao clinicalphenotypeofakallmannsyndromepatientwithil17rdandcpeb4variants AT lianshuhan clinicalphenotypeofakallmannsyndromepatientwithil17rdandcpeb4variants |