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Disease Category: autosomal recessive

Patient Population: <20 known

Known Clinical Trials: None known

Treatment Option(s): None known

Strategies to Preserve Eye Health: Lutein 

Institution(s) Conducting Research:

Radboud Univ Med Center


Cate Elam INPP5E





Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L. Müller, Philipp Herrmann,  Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G. Holz,  Elisabeth Mangold, Hanno J. Bolz, and Peter Charbel Issa | Scientific Reports | Vol 8, Article No. 4824 | 19 Mar 2018 |

Per 2017 published research, another woman with a non-syndromic INPP5E gene mutation is  57 years-old patient. At the time of the study, she still had 20/20 vision, but increased light sensitivity and decreased visual acuity.

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

Melissa C. Humbert, Katie Weihbrecht, Charles C. Searby, Yalan Li, Robert M. Pope, Val C. Sheffield, and Seongjin Seo | PNAS | Vol. 109 (48) | 19691-19696 | 27 Nov 2012 |

The Joubert Syndrome Protein INPP5E Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane

Wenyan Xu, Miaomiao Jin, Ruikun Hu, Hong Wang, Fan Zhang, Shiaulou Yuan and Ying Cao |  JSAN | Vol 28 (1) | pgs. 118-129 |  Jan 2017 |

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E

Kollu N. Rao,  Wei Zhang,  Linjing Li,  Manisha Anand,  and Hemant Khanna, Human Molecular Genetics | Vol 25, Issue 20 | pgs. 4533 - 4545 | 15 Oct 2016 |

Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Naomi E. Wagner, Anne B. Fulton, Luisa CoutinhoSantos, Boris Rosin, Vincent Dunet, Ala’a Al Talbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska | medRxiv | 26 Aug 2020 |

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L

Christine Vössing, Paul Atigbire, Jannis Eilers, Fenja Markus, Knut Stieger, Fei Song, and John Neidhardt | International Journal Molecular Sciences | 22 Apr 2021 | pg. 3583 |

doi: 10.3390/ijms22073583

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