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Article

KMT2C Polymorphism in Familial Hypospadias.

Indian journal of pediatrics - 1 May 2025

Kumar Sourabh, Sharma Jyoti, Sardar Rahila, Jain Vishesh, Dhua Anjan Kumar, Yadav Devendra Kumar, Agarwala Sandeep, Shamsi Monis Bilal, Almaramhy Hamdi Hameed, Singh Harpreet, Kumar Neeta, Pandey Himani, Goel Prabudh

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39812948
DOI: 10.1007/s12098-024-05384-8

Genes

KMT2C
ATRX
BAHD1
CHD7
MAP3K1

Provenance

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