Work

Unraveling the Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? Case Presentation

Year: 2024

Type: article

Abstract: What is already known about this topic?While MAP3K7 variants have been associated with disorders like Cardiospondylocarpofacial syndrome (CSCFS) and Frontometaphyseal dysplasia 2 (FMD2).The incidence of NS is approximately 1:1000, and while genetic confirmation is ideal, it may not be possible for all cases.Negative genetic test results do not necessarily exclude NS, emphasizing the importance of clinical evaluation.What this study adds to the literature?The patient's clinical features, such as short stature, valvular heart disease, and facial dysmorphisms, are compatible with NS characteristics despite the MAP3K7 variant being classified as a variant of uncertain significance.This case raises the question of whether MAP3K7 could be a candidate gene for Noonan Syndrome (NS).

Source: Journal of Clinical Research in Pediatric Endocrinology

DOI: 10.4274/jcrpe.galenos.2024.2024-3-5

Authors: Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Serdar Ceylaner, Merih Berberoğlu

Institutions: Ankara University, Intergen (Turkey)

Language: English

Topic: Protein Tyrosine Phosphatases

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $100