Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome

Masaki Takagi, Tatsuya Miyoshi, Yuka Nagashima, Nao Shibata, Hiroko Yagi, Ryuji Fukuzawa, Tomonobu Hasegawa

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

Abstract

Heterozygous kinase domain mutations or homozygous extracellular domain mutations in FGFR1 have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in FGFR1 have been described; however, only 10 HS-associated mutations have been reported thus far. We describe a case of typical HS with hypogonadotropic hypogonadism (HH) harboring a novel heterozygous mutation, p.His253Pro, in the extracellular domain of FGFR1. This is the first report of an HS-associated heterozygous mutation located in the extracellular domain of FGFR1, thus expanding our understanding of the phenotypic features and further developmental course associated with FGFR1 mutations.

Original languageEnglish
Article number16034
JournalHuman Genome Variation
Volume3
DOIs
Publication statusPublished - 2016 Oct 13

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

Fingerprint Dive into the research topics of 'Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome'. Together they form a unique fingerprint.

Cite this