Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

Odeya David, Marina Eskin-Schwartz, Galina Ling, Vadim Dolgin, Eyal Kristal, Ela Benkowitz, Lidia Osyntsov, Libe Gradstein, Ohad S. Birk, Neta Loewenthal, Baruch Yerushalmi

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Ciliopathies are a heterogeneous group of disorders, related to abnormal ciliary function. Severe biliary ciliopathy, caused by bi-allelic mutations in TTC26, has been recently described in the context of a syndrome of polydactyly and severe neonatal cholestasis, with brain, kidney and heart involvement. Pituitary involvement has not been previously reported for patients with this condition. Pituitary stalk interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland, diagnosed by characteristic MRI findings. We now describe four patients with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation and delineate PSIS as a novel clinical feature of this disorder, highlighting an important role of TTC26 in pituitary development.

Original languageEnglish
Pages (from-to)303-307
Number of pages5
JournalClinical Genetics
Issue number3
StatePublished - 1 Sep 2020


  • Caroli disease
  • TTC26
  • cholestasis
  • ciliopathy
  • hypophysis
  • pituitary

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy'. Together they form a unique fingerprint.

Cite this