PDF(Pubmed)
Abstract：
UNASSIGNED: This study aimed to characterize the clinical phenotype and genetic variations in patients with Kallmann syndrome (KS).
UNASSIGNED: This 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.
UNASSIGNED: Whole-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.
UNASSIGNED: Bioinformatics 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.
UNASSIGNED: This 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.
UNASSIGNED: Whole-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.
UNASSIGNED: Bioinformatics 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.
摘要：
■本研究旨在表征Kallmann综合征（KS）患者的临床表型和遗传变异。
■本研究涉及收集和分析散发性KS患者的临床数据。在此之后,患者及其父母的外周血样本.提取基因组脱氧核糖核酸并进行全外显子组测序和基因组拷贝数变异(CNV)检测。最后,进行Sanger测序以验证可疑的致病变体。
■全外显子组测序证实该儿童携带了两种IL17RD变体（c.2101G>A，p.Gly701Ser）从母亲和新的CPEB4变体（c.1414C>T，p.Arg472*).在CNV测试中未鉴定出致病性CNV。
■生物信息学分析表明，IL17RD蛋白经历Gly701Ser突变，推测为磷酸化和修饰，从而破坏成纤维细胞生长因子信号传导。这项研究还表明，CPEB4可能在影响嗅球形态发生的关键信号过程中起着至关重要的作用。总的来说,这项研究的发现拓宽了KS相关致病基因的基因表达谱。这为探索KS的致病机制提供了新的途径，并为该病的精确临床诊断和治疗策略提供了有价值的见解。
■本研究涉及收集和分析散发性KS患者的临床数据。在此之后,患者及其父母的外周血样本.提取基因组脱氧核糖核酸并进行全外显子组测序和基因组拷贝数变异(CNV)检测。最后,进行Sanger测序以验证可疑的致病变体。
■全外显子组测序证实该儿童携带了两种IL17RD变体（c.2101G>A，p.Gly701Ser）从母亲和新的CPEB4变体（c.1414C>T，p.Arg472*).在CNV测试中未鉴定出致病性CNV。
■生物信息学分析表明，IL17RD蛋白经历Gly701Ser突变，推测为磷酸化和修饰，从而破坏成纤维细胞生长因子信号传导。这项研究还表明，CPEB4可能在影响嗅球形态发生的关键信号过程中起着至关重要的作用。总的来说,这项研究的发现拓宽了KS相关致病基因的基因表达谱。这为探索KS的致病机制提供了新的途径，并为该病的精确临床诊断和治疗策略提供了有价值的见解。
