Variants in CFAP410 cause a range of retinal and skeletal phenotypes

Ryan E. Schmidt; Amy E. Pohodich; David Birch; Kaylie Jones; Byron L. Lam; Emily H. Jung; Nieraj Jain; Michalis Georgiou; Omar A. Mahroo; Andrew R. Webster; Michel Michaelides; Benjamin Bakall; Alessandro Iannaccone; Ajoy Vincent; Deepika C. Parameswarappa; Elise Heon; Hendrik P. N. Scholl; Lucas Janeschitz-Kriegl; Elias I. Traboulsi; Wadih Zein; Brian P. Brooks; Catherine Cukras; Robert Hufnagel; Tomas S. Aleman; Mohamed M. Sylla; Stephen H. Tsang; Michelle Alabek; Jose Sahel; Michael B. Gorin; Maria M. van Genderen; Katarina Stingl; Milda Reith; Susanne Kohl; Rebeca Azevedo Souza Amaral; Juliana Maria Ferraz Sallum; Andrea L. Vincent; Sarah Hull; Jacque L. Duncan; James V. M. Hanson; Matthias Tedeus; Jordi Maggi; Urs Graf; Samuel Koller; Wolfgang Berger; Christina Gerth-Kahlert; Molly Marra; Lesley A. Everett; Paul Yang; Mark E. Pennesi

doi:10.1038/s41525-025-00489-1

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Variants in CFAP410 cause a range of retinal and skeletal phenotypes

Journal article

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Variants in CFAP410 cause a range of retinal and skeletal phenotypes

Ryan E. Schmidt, Amy E. Pohodich, David Birch, Kaylie Jones, Byron L. Lam, Emily H. Jung, Nieraj Jain, Michalis Georgiou, Omar A. Mahroo, Andrew R. Webster, …

Npj genomic medicine, Vol.10(1), pp.32-11

2025-04-17

DOI: https://doi.org/10.1038/s41525-025-00489-1

PMID: 40246852

Appears in Miller School of Medicine - Latest Publications

Abstract

631/208/1516

631/208/2489/144

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Bioinformatics

Biomedical and Life Sciences

Biomedicine

Gene Function

Gene Therapy

general

Human Genetics

Internal Medicine

Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 ( CFAP410 ) from multiple ophthalmic centers across the world. Common clinical features included early-onset reduced visual acuity, photophobia, and delayed light-to-dark adaptation. A cone-rod dystrophy pattern was observed roughly two times more commonly than rod-cone dystrophy. A minority of patients (22.4%) presented with skeletal abnormalities consistent with axial spondylometaphyseal dysplasia (SMDAX). Patients with the most severe ophthalmic and skeletal phenotypes had disease-associated variants within conserved leucine-rich regions of CFAP410 , and the structural effects of these variants were modelled using ChimeraX. This report furthers our understanding of CFAP410 -associated clinical phenotypes such as retinal dystrophy and skeletal dysplasia.

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Title: Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Creators: Ryan E. Schmidt - Oregon Health & Science University
Amy E. Pohodich - Oregon Health & Science University
David Birch - Retina Foundation of the Southwest
Kaylie Jones - Retina Foundation of the Southwest
Byron L. Lam - University of Miami
Emily H. Jung - Duke University
Nieraj Jain - Emory University
Michalis Georgiou - UCL Australia
Omar A. Mahroo - University College London
Andrew R. Webster - University College London
Michel Michaelides - University College London
Benjamin Bakall - University of Arizona
Alessandro Iannaccone - Duke University
Ajoy Vincent - Hospital for Sick Children
Deepika C. Parameswarappa - University of Toronto
Elise Heon - Great Ormond Street Hospital
Hendrik P. N. Scholl - University of Basel
Lucas Janeschitz-Kriegl - Institute of Molecular and Clinical Ophthalmology Basel
Elias I. Traboulsi - Cleveland Eye Clinic
Wadih Zein - National Institutes of Health
Brian P. Brooks - National Eye Institute
Catherine Cukras - National Eye Institute
Robert Hufnagel - National Institutes of Health
Tomas S. Aleman - Penn Presbyterian Medical Center
Mohamed M. Sylla - New York Hospital Queens
Stephen H. Tsang - New York Hospital Queens
Michelle Alabek - University of Pittsburgh
Jose Sahel - University of Pittsburgh School of Medicine
Michael B. Gorin - University of California, Los Angeles
Maria M. van Genderen - University Medical Center Utrecht
Katarina Stingl - STZ eyetrial
Milda Reith - STZ eyetrial
Susanne Kohl - STZ eyetrial
Rebeca Azevedo Souza Amaral - Universidade Federal de São Paulo
Juliana Maria Ferraz Sallum - Universidade Federal de São Paulo
Andrea L. Vincent - University of Auckland
Sarah Hull - University of Auckland
Jacque L. Duncan - University of California, San Francisco
James V. M. Hanson - University Hospital of Zurich
Matthias Tedeus - Schulthess-Klinik
Jordi Maggi - University of Zurich
Urs Graf - University of Zurich
Samuel Koller - University of Zurich
Wolfgang Berger - University of Zurich
Christina Gerth-Kahlert - University Hospital of Zurich
Molly Marra - Oregon Health & Science University
Lesley A. Everett - Oregon Health & Science University
Paul Yang - Oregon Health & Science University
Mark E. Pennesi - Oregon Health & Science University
Publication Details: Npj genomic medicine, Vol.10(1), pp.32-11
Publisher: Nature Publishing Group UK
Academic Unit: UMMG Department of Ophthalmology; Miller School of Medicine
Language: English
Resource Type: Journal article
PMID: 40246852
Record Identifier: 991032634282002976