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<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 <i>KMT2C</i> polymorphisms in a Yemeni family with two affected siblings. Comprehensive analysis identified 475 unique SNPs in <i>KMT2C</i>, with 59 shared between parents, suggesting common ancestry. Key interactions with genes such as <i>MAP3K1</i>, <i>ATRX</i>, and <i>CHD7</i> implicated in sex differentiation were noted. Novel findings included a deleterious <i>BAHD1</i> 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>

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KMT2C Polymorphism in Familial Hypospadias

  • 期刊论文

  • 发表日期：

    2025年1月15日

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  • 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

摘要

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.