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

研究成果: Article査読

5 被引用数 (Scopus)

抄録

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.

本文言語English
論文番号16034
ジャーナルHuman Genome Variation
3
DOI
出版ステータスPublished - 2016 10 13

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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