Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications

Frontiers in Endocrinology, Journal Year: 2024, Volume and Issue: 15

Published: April 18, 2024

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by agenesis/aplasia of the uterus and upper part vagina in females with normal external genitalia female karyotype (46,XX). Patients typically present during adolescence complaints primary amenorrhea where diagnosis established significant implications including absolute infertility. Most often cases appear isolated no family history MRKH or related anomalies. However, cumulative reports familial recurrence suggest genetic factors to be involved. Early candidate gene studies had limited success their search for causes syndrome. More recently, genomic investigations using chromosomal microarray genome-wide sequencing have been successful detecting promising variants associated syndrome, 17q12 ( LHX1, HNF1B ) 16p11.2 TBX6 deletions sequence variations GREB1L PAX8 , pointing towards heterogeneous etiology various genes With transplantation as an emerging fertility treatment increasing evidence etiologies, need counseling concerning risk offspring will likely increase. This review presents advancements genetics from early occurrences searches current studies. Moreover, provides suggestions future discusses potential clinical practice.

Language: Английский

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Case report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome

Journal of Otology, Journal Year: 2025, Volume and Issue: 20(2), P. 67 - 71

Published: April 1, 2025

Language: Английский

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A Machine Learning Classifier to Identify and Prioritise Genes Associated with Cardiac Development

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 8, 2024

Abstract Congenital heart disease (CHD) is a major cause of infant mortality and presents life-long challenges to individuals living with these conditions. Genetic causes are known for only minority types CHD. Discovering further genetic limited by in prioritising candidate CHD genes. We examined wide range features mouse genes, including sequence characteristics, protein localisation interaction data, developmental expression data gene ontology annotations. Many differ between cardiac development non-cardiac suggesting that two can be distinguished their attributes. Therefore, we developed supervised machine learning (ML) method identify Mus musculus genes high probability being involved development. These when mutated, candidates causing human Our classifier showed cross-validation accuracy 81% detecting From our generated predictions the association status all protein-coding genome. also cross-referenced datasets determining which orthologues predicted have overlap Thus, could inform prioritisation evaluating patient diagnosis. Knowledge may speed up reaching diagnosis patients born Author Summary arises during pregnancy has formed incorrectly. malformations affect ∼1% newborns. Yet, despite frequency, underlying still not many cases. It clear factors contribute defects, increasingly DNA sequencing used attempt determine if an individual change causative condition. However, analysis often reveals changes difficult interpret due lack knowledge function harbouring change. aimed facilitate process evaluation predicting unknown likely formation. agree novel experimental evidence about needed found proportion do indeed defects. This result suggests informative expanding understanding basis congenital disease.

Language: Английский

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Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies

Kidney International Reports, Journal Year: 2024, Volume and Issue: 10(3), P. 673 - 695

Published: Dec. 28, 2024

Language: Английский

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