Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation

Yumi Asakura, Koji Muroya, Junko Hanakawa, Takeshi Sato, Noriko Aida, Satoshi Narumi, Tomonobu Hasegawa, Masanori Adachi

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant (c.742C>T; p.R248W) in a female patient who had combined pituitary hormone deficiency (CPHD), morning glory syndrome and a severely malformed pituitary gland. No other mutation was present in 27 genes related to hypogonadotropic hypogonadism, pituitary hormone deficiency and optic nerve malformation. The substituted amino acid was located on the third intracellular loop of the PROKR2 protein, which is a G protein-coupled receptor. Computational analyses with two programs (SIFT and PolyPhen-2) showed that the substitution was deleterious to PROKR2 function. The p.R248W mutation was transmitted from the patient’s mother, who had a slightly delayed menarche. Collectively, we provide further genetic evidence linking heterozygous PROKR2 mutations and the development of CPHD.

Original languageEnglish
Pages (from-to)27-32
Number of pages6
Journalclinical pediatric endocrinology
Volume24
Issue number1
DOIs
Publication statusPublished - 2015 Jan 1

Keywords

  • Combined pituitary hormone deficiency (CPHD)
  • Morning glory syndrome
  • PROK2
  • PROKR2
  • Pituitary dysplasia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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