A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss

Lauren Y. Cao; Anna Duemler; Emily H. Jung; Ramiro S. Maldonado; Sarah Richards; Elena R. Schiff; Omar A. Mahroo; Andrew R. Webster; Siying Lin; Beau J. Fenner; Alessandro Iannaccone; Oleg Alekseev

doi:10.1080/13816810.2025.2565651

A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss

Lauren Y. Cao
, Anna Duemler
, Emily H. Jung
, Ramiro S. Maldonado
, Sarah Richards
, Elena R. Schiff
, Omar A. Mahroo
, Andrew R. Webster
, Siying Lin
, Beau J. Fenner
, Alessandro Iannaccone
, Oleg Alekseev

Jerry M. Wallace School of Osteopathic Medicine

Duke University School of Medicine
LLC
UCL Institute of Ophthalmology
Faculty of Biology, Medicine and Health
Manchester Royal Eye Hospital
Singapore National Eye Centre
Singapore Eye Research Institute
Inc.
University of North Carolina School of Medicine

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	594-603
Number of pages	10
Journal	Ophthalmic Genetics
Volume	46
Issue number	6
DOIs	https://doi.org/10.1080/13816810.2025.2565651
State	Published - 2025

ASJC Scopus Subject Areas

Pediatrics, Perinatology, and Child Health
Ophthalmology
Genetics(clinical)

Keywords

cone-rod dystrophy
LCAEOD
TUBB4B
β-tubulin 4B

Access to Document

10.1080/13816810.2025.2565651

Cite this

Cao, L. Y., Duemler, A., Jung, E. H., Maldonado, R. S., Richards, S., Schiff, E. R., Mahroo, O. A., Webster, A. R., Lin, S., Fenner, B. J., Iannaccone, A., & Alekseev, O. (2025). A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss. Ophthalmic Genetics, 46(6), 594-603. https://doi.org/10.1080/13816810.2025.2565651

Cao, LY, Duemler, A, Jung, EH, Maldonado, RS, Richards, S, Schiff, ER, Mahroo, OA, Webster, AR, Lin, S, Fenner, BJ, Iannaccone, A & Alekseev, O 2025, 'A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss', Ophthalmic Genetics, vol. 46, no. 6, pp. 594-603. https://doi.org/10.1080/13816810.2025.2565651

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title = "A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss",

keywords = "cone-rod dystrophy, LCAEOD, TUBB4B, β-tubulin 4B",

author = "Cao, \{Lauren Y.\} and Anna Duemler and Jung, \{Emily H.\} and Maldonado, \{Ramiro S.\} and Sarah Richards and Schiff, \{Elena R.\} and Mahroo, \{Omar A.\} and Webster, \{Andrew R.\} and Siying Lin and Fenner, \{Beau J.\} and Alessandro Iannaccone and Oleg Alekseev",

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doi = "10.1080/13816810.2025.2565651",

language = "English",

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AU - Cao, Lauren Y.

AU - Duemler, Anna

AU - Jung, Emily H.

AU - Maldonado, Ramiro S.

AU - Richards, Sarah

AU - Schiff, Elena R.

AU - Mahroo, Omar A.

AU - Webster, Andrew R.

AU - Lin, Siying

AU - Fenner, Beau J.

AU - Iannaccone, Alessandro

AU - Alekseev, Oleg

PY - 2025

Y1 - 2025

KW - cone-rod dystrophy

KW - LCAEOD

KW - TUBB4B

KW - β-tubulin 4B

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UR - https://www.scopus.com/pages/publications/105018828215#tab=citedBy

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DO - 10.1080/13816810.2025.2565651

M3 - Article

C2 - 41057290

AN - SCOPUS:105018828215

SN - 1381-6810

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JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

IS - 6

ER -

A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss

ASJC Scopus Subject Areas

Keywords

Access to Document

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