title: Novel heterozygous mutation in the extracellular domain ofFGFR1associated with Hartsfield syndrome.
abstract: Heterozygous kinase domain mutations or homozygous extracellular domain mutations inFGFR1have 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 inFGFR1have 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 ofFGFR1. This is the first report of an HS-associated heterozygous mutation located in the extracellular domain ofFGFR1, thus expanding our understanding of the phenotypic features and further developmental course associated withFGFR1mutations.
authors: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan; Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors: Masaki
authors: M
authors: Takagi
authors: Department of Endocrinology and Metabolism, Shikoku Medical Center for Children and Adults , Kagawa, Japan.
authors: Tatsuya
authors: T
authors: Miyoshi
authors: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center , Tokyo, Japan.
authors: Yuka
authors: Y
authors: Nagashima
authors: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center , Tokyo, Japan.
authors: Nao
authors: N
authors: Shibata
authors: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center , Tokyo, Japan.
authors: Hiroko
authors: H
authors: Yagi
authors: Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children's Medical Center , Tokyo, Japan.
authors: Ryuji
authors: R
authors: Fukuzawa
authors: Department of Pediatrics, Keio University School of Medicine , Tokyo, Japan.
authors: Tomonobu
authors: T
authors: Hasegawa