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Article

Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.

American journal of medical genetics. Part A - 1 Nov 2025

Pan Dongxue, Yang Xiufang

Abstract excerpt

Apert syndrome (AS) is a rare autosomal dominant congenital disorder characterized by craniosynostosis, midfacial hypoplasia, and syndactyly. Most cases are caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, primarily S252W and P253R mutations, more than 98% resulting from de novo mutations. The FGFR2 gene encodes a receptor tyrosine kinase protein, which is essential for embryonic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40557693
DOI: 10.1002/ajmg.a.64158

Genes

FGFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.PMID 40557693Read ↗

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Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.Semantic proximity Read ↗

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.Semantic proximity Read ↗

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Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.Semantic proximity Read ↗

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