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Article

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.

Human molecular genetics - 15 May 2016

Hong Sungkook, Hu Ping, Marino Juliana, Hufnagel Sophia B, Hopkin Robert J, Toromanović Alma, Richieri-Costa Antonio, Ribeiro-Bicudo Lucilene A, Kruszka Paul, Roessler Erich, Muenke Maximilian

Abstract excerpt

Mutations in FGFR1 have recently been associated with Hartsfield syndrome, a clinically distinct syndromic form of holoprosencephaly (HPE) with ectrodactly, which frequently includes combinations of craniofacial, limb and brain abnormalities not typical for classical HPE. Unrelated clinical conditions generally without craniofacial or multi-system malformations include Kallmann syndrome and idiopathic...

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Source

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Identifiers

PMID: 26931467
DOI: 10.1093/hmg/ddw064
PMCID: PMC5062582

Genes

FGFR1
FGF8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.PMID 26931467Read ↗

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

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

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

A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.Semantic proximity Read ↗

Novel insights in FGFR1 regulation: lessons from Kallmann syndromeSemantic proximity Read ↗

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.Semantic proximity Read ↗

Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).Semantic proximity Read ↗

Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.Semantic proximity Read ↗

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.Semantic proximity Read ↗

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

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.Semantic 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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