Identification of candidate genes for developmental colour agnosia in a single unique family

Tanja C.W. Nijboer, Ellen V.S. Hessel, Gijs W. van Haaften, Martine J. van Zandvoort, Peter J. van der Spek, Christine Troelstra, Carolien G.F. de Kovel, Bobby P.C. Koeleman, Bert van der Zwaag, Eva H. Brilstra, J. Peter H. Burbach*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and only-known family with hereditary developmental colour agnosia. The aim of the current study was to explore genomic regions and candidate genes that potentially cause this trait in this family. For three family members with developmental colour agnosia and three unaffected family members CGH-array analysis and exome sequencing was performed, and linkage analysis was carried out using DominantMapper, resulting in the identification of 19 cosegregating chromosomal regions. Whole exome sequencing resulted in 11 rare coding variants present in all affected family members with developmental colour agnosia and absent in unaffected members. These variants affected genes that have been implicated in neural processes and functions (CACNA2D4, DDX25, GRINA, MYO15A) or that have an indirect link to brain function, development or disease (MAML2, STAU1, TMED3, RABEPK), and a remaining group lacking brain expression or involved in non-neural traits (DEPDC7, OR1J1, OR8D4). Although this is an explorative study, the small set of candidate genes that could serve as a starting point for unravelling mechanisms of higher level cognitive functions and cortical specialization, and disorders therein such as developmental colour agnosia.

Original languageEnglish
Article numbere0290013
JournalPLoS ONE
Volume18
Issue number9 September
DOIs
Publication statusPublished - Sept 2023

Bibliographical note

Publisher Copyright:
© 2023 Nijboer et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Funding:

This project was supported financially by
the Neuroscience Center Utrecht as part of the
intramural Focus & Massa programme grant of the
Utrecht University to JPHB. The funder had no role
in study design, data collection and analysis,
decision to publish, or preparation of the
manuscript.

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