title: A novel KAL1 mutation is associated with combined pituitary hormone deficiency.
abstract: Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to luteinizing hormone, and follicle-stimulating hormone deficiencies, and improve our understanding of the phenotypic features and developmental course associated with KAL1 mutations.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Takagi
authors.affiliation: Department of Pediatrics, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Narumi
authors.affiliation: Department of Nephrology, Tokyo Metropolitan Children's Medical Center , Tokyo, Japan.
authors.forename: Riku
authors.initials: R
authors.lastname: Hamada
authors.affiliation: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center , Tokyo, Japan.
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Hasegawa
authors.affiliation: Department of Pediatrics, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa