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Authors
D’Incal, Claudio Peter https://orcid.org/0000-0003-1888-9066
Dierickx, Bram
Vingerhoets, Claudia
van Haelst, Mieke https://orcid.org/0000-0002-7519-0246
Annear, Dale John https://orcid.org/0000-0003-0346-7063
Van Dijck, Anke https://orcid.org/0000-0002-6713-2943
Bastini, Lina
Konings, Anthony
Elinck, Ellen
Mateiu, Ligia https://orcid.org/0000-0002-2655-3581
van Eeghen, Agnies M. https://orcid.org/0000-0001-8149-8645
Kooy, R. Frank https://orcid.org/0000-0003-2024-0485
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Article History
Received: 11 February 2025
Revised: 29 September 2025
Accepted: 14 October 2025
First Online: 21 October 2025
Competing interests
: The authors declare no competing interests.
: Clinical information of the 23-year-old male proband together with the 63-year-old mother with the c.500A>C (p.Gln167Pro) FMR1 variant were received under informed consent from the tending clinician and was approved by the Ethics Committee of the Antwerp University Hospital, Antwerp, Belgium with reference number B300201316250. HEK293T cells were purchased from ATCC at a low passage number with consistent use of cells below a passage number of 15. LCLs were generated from peripheral blood lymphocytes donated by a consenting mother and clinicians in the laboratory of Frank Kooy.
: A written informed consent for publication of the subjects with the c.500A>C (p.Gln167Pro) FMR1 variant was provided by the mother and legal representative for use of photographs, biopsies and/or X-rays for medical reasons (discussion between colleagues, teaching, or publication in scientific papers). All patient-derived cell lines were obtained under a written informed consent for publication by the patients and the tending clinicians.
