A novel KAL1 mutation is associated with combined pituitary hormone deficiency

Masaki Takagi, Satoshi Narumi, Riku Hamada, Yukihiro Hasegawa, Tomonobu Hasegawa

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Article number14011
JournalHuman Genome Variation
Volume1
DOIs
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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