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Article

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.

American journal of medical genetics. Part A - 1 Jan 2026

An Jun, Wu Sihui, Guo Kexin, Chen Hao, Yang Chun, Qiao Fengchang, Hu Ping

Abstract excerpt

Molecular genetic testing was performed on a fetus with ectrodactyly of the right foot to clarify the pathogenic cause and provide evidence for prenatal counseling. Trio whole-exome sequencing (trio-WES) was performed on the fetus and his parents to identify the underlying genetic cause. Candidate variants were validated by Sanger sequencing, and their molecular effects were analyzed through minigene assays....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40801429
DOI: 10.1002/ajmg.a.64226

Genes

FGFR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.PMID 40801429Read ↗

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.Semantic proximity Read ↗

Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.Semantic proximity Read ↗

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.Semantic proximity Read ↗

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.Semantic proximity Read ↗

Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system.Semantic proximity Read ↗

Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.Semantic proximity Read ↗

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome SequencingSemantic proximity Read ↗

An isolated hypogonadotropic hypogonadism male with a novel de novoFGFR1 mutation fathered a normal son evidenced by prenatal genetic diagnosis.Semantic proximity Read ↗

Genetic Analysis of Isolated Fetal Growth RestrictionSemantic proximity Read ↗

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.Semantic proximity Read ↗

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