{"title":"家族性尿道下裂的KMT2C多态性。","authors":"Sourabh Kumar, Jyoti Sharma, Rahila Sardar, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Sandeep Agarwala, Monis Bilal Shamsi, Hamdi Hameed Almaramhy, Harpreet Singh, Neeta Kumar, Himani Pandey, Prabudh Goel","doi":"10.1007/s12098-024-05384-8","DOIUrl":null,"url":null,"abstract":"<p><p>Hypospadias, a common congenital anomaly of male genitalia, shows significant heritability and familial recurrence, particularly in consanguineous families. This study explored the role of KMT2C polymorphisms in a Yemeni family with two affected siblings. Comprehensive analysis identified 475 unique SNPs in KMT2C, with 59 shared between parents, suggesting common ancestry. Key interactions with genes such as MAP3K1, ATRX, and CHD7 implicated in sex differentiation were noted. Novel findings included a deleterious BAHD1 mutation and a de novo rs201834857 variant linked to Kleefstra syndrome 2. The study emphasizes the multifactorial etiology of hypospadias, integrating genetic, epigenetic, and environmental factors, and highlights the need for further research.</p>","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"538-540"},"PeriodicalIF":2.1000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"KMT2C Polymorphism in Familial Hypospadias.\",\"authors\":\"Sourabh Kumar, Jyoti Sharma, Rahila Sardar, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Sandeep Agarwala, Monis Bilal Shamsi, Hamdi Hameed Almaramhy, Harpreet Singh, Neeta Kumar, Himani Pandey, Prabudh Goel\",\"doi\":\"10.1007/s12098-024-05384-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Hypospadias, a common congenital anomaly of male genitalia, shows significant heritability and familial recurrence, particularly in consanguineous families. This study explored the role of KMT2C polymorphisms in a Yemeni family with two affected siblings. Comprehensive analysis identified 475 unique SNPs in KMT2C, with 59 shared between parents, suggesting common ancestry. Key interactions with genes such as MAP3K1, ATRX, and CHD7 implicated in sex differentiation were noted. Novel findings included a deleterious BAHD1 mutation and a de novo rs201834857 variant linked to Kleefstra syndrome 2. The study emphasizes the multifactorial etiology of hypospadias, integrating genetic, epigenetic, and environmental factors, and highlights the need for further research.</p>\",\"PeriodicalId\":13320,\"journal\":{\"name\":\"Indian Journal of Pediatrics\",\"volume\":\" \",\"pages\":\"538-540\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2025-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian Journal of Pediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12098-024-05384-8\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/15 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12098-024-05384-8","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/15 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
Hypospadias, a common congenital anomaly of male genitalia, shows significant heritability and familial recurrence, particularly in consanguineous families. This study explored the role of KMT2C polymorphisms in a Yemeni family with two affected siblings. Comprehensive analysis identified 475 unique SNPs in KMT2C, with 59 shared between parents, suggesting common ancestry. Key interactions with genes such as MAP3K1, ATRX, and CHD7 implicated in sex differentiation were noted. Novel findings included a deleterious BAHD1 mutation and a de novo rs201834857 variant linked to Kleefstra syndrome 2. The study emphasizes the multifactorial etiology of hypospadias, integrating genetic, epigenetic, and environmental factors, and highlights the need for further research.
期刊介绍：
Indian Journal of Pediatrics (IJP), is an official publication of the Dr. K.C. Chaudhuri Foundation. The Journal, a peer-reviewed publication, is published twelve times a year on a monthly basis (January, February, March, April, May, June, July, August, September, October, November, December), and publishes clinical and basic research of all aspects of pediatrics, provided they have scientific merit and represent an important advance in knowledge. The Journal publishes original articles, review articles, case reports which provide new information, letters in relation to published articles, scientific research letters and picture of the month, announcements (meetings, courses, job advertisements); summary report of conferences and book reviews.
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