Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Sep;98(3):303-307.
doi: 10.1111/cge.13805. Epub 2020 Aug 3.

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

Odeya David  1   2   3 , Marina Eskin-Schwartz  3   4 , Galina Ling  2   3   5 , Vadim Dolgin  4 , Eyal Kristal  2 , Ela Benkowitz  6 , Lidia Osyntsov  7 , Libe Gradstein  4   8 , Ohad S Birk  4 , Neta Loewenthal  1   2   3 , Baruch Yerushalmi  2   3   5
Affiliations

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

Odeya David et al. Clin Genet. 2020 Sep.

Abstract

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.

Keywords: Caroli disease; TTC26; cholestasis; ciliopathy; hypophysis; pituitary.

PubMed Disclaimer

References

REFERENCES

    1. Reiter JF, Leroux MR. Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol. 2017;18(9):533-547.
    1. Pedersen LB, Rosenbaum JL. Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling. Curr Top Dev Biol. 2008;85:23-61.
    1. Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol. 2011;26(7):1039-1056.
    1. Shaheen R, Szymanska K, Basu B, et al. Characterizing the morbid genome of ciliopathies. Genome Biol. 2016;17(1):242.
    1. Shaheen R, Alsahli S, Ewida N, et al. Biallelic mutations in TTC26 (IFT56) cause severe biliary ciliopathy in humans. Hepatology. 2020;71(6):2067-2079.

Publication types

Substances