Evidence map›Paper›PMID 39812948›Full record

ArticleIndian journal of pediatrics2025

KMT2C Polymorphism in Familial Hypospadias.

Sourabh Kumar, Jyoti Sharma, Rahila Sardar, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Sandeep Agarwala, Monis Bilal Shamsi, Hamdi Hameed Almaramhy, Harpreet Singh and 3 more

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Article in Indian journal of pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Sourabh KumarDepartment of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, 110029, India.
Jyoti SharmaDepartment of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, 110029, India.
Rahila SardarVgenomics, Noida, India.
Vishesh JainDepartment of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, 110029, India.
Anjan Kumar DhuaDepartment of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, 110029, India.
Devendra Kumar YadavDepartment of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, 110029, India.
Sandeep AgarwalaDepartment of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, 110029, India.
Monis Bilal ShamsiCentre for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, 42361, Saudi Arabia.
Hamdi Hameed AlmaramhyDepartment of Surgery, College of Medicine, Taibah University, Medina, Saudi Arabia.
Harpreet SinghDivision of Development Research, Indian Council of Medical Research, New Delhi, India.
Neeta KumarDivision of Discovery Research, Indian Council of Medical Research, New Delhi, India.
Himani PandeyRedcliffe Labs Private Limited, New Delhi, India.
Prabudh GoelDepartment of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, 110029, India. drprabudhgoel@gmail.com.ORCID 0000-0001-6179-1625

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

DNA-Binding ProteinsHypospadiasPolymorphism, Single NucleotideHumansMalePedigreeDNA-Binding ProteinsKMT2C protein, humanBAHD1Genetic architectureHypospadiasKMT2CLysine methyltransferase 2CWhole exome sequencing

Identifiers

PMID39812948

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.