ArticleAmerican journal of medical genetics. Part A2018
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Molecular and Genetic Mechanisms of Spinal Stenosis Formation: Systematic Review.International journal of molecular sciences · 2022Pooled it
- Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants.European journal of human genetics : EJHG · 2025Article
- Review of published 467 achondroplasia patients: clinical and mutational spectrum.Orphanet journal of rare diseases · 2024Review
- Bilious Vomiting in the Newborn: A Three-Year Experience in a Tertiary Medical and Surgical Centre.Case reports in pediatrics · 2020Article
- Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for a broad spectrum of skeletal dysplasias, including achondroplasia (ACH). The classic phenotype of ACH is caused by two highly prevalent mutations, c.1138G > A and c.1138G > C (p.Gly380Arg). In the homozygous state, these variant results in a severe skeletal dysplasia, neurologic deficits, and early demise from respiratory insufficiency. Although homozygous biallelic mutations have been reported in patients with ACH in combination with hypochondroplasia or other dominant skeletal dysplasias, thus far, no cases of heterozygous biallelic pathogenic ACH-related variants in FGFR3 have been reported. We describe a novel phenotype of an infant with two ACH-related mutations in FGFR3, p.Gly380Arg and p.Ser344Cys. Discordant features from classic ACH include atypical radiographic findings, severe obstructive sleep apnea, and focal, migrating seizures. We also report the long-term clinical course of her father, who harbors the p.Ser344Cys mutation that has only been reported once previously in a Japanese patient. The phenotype of heterozygous biallelic mutations in FGFR3 associated with ACH is variable, underscoring the importance of recognition and accurate diagnosis to ensure appropriate management.
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