As part of a large-scale genotyping project, patients with IN (
n = 511) were recruited at one centre in the UK (University Hospitals of Leicester) and two centres in Korea (Yonsei University College of Medicine and University of Ulsan College of Medicine) over a period of 5 years (2014–2019). Informed consent was obtained from all participants involved. The study was approved with a local ethics committee and all aspects of the study were conducted in accordance with the Tenets of the Declaration of Helsinki.
The details of our pilot genotyping project have been previously described (14 (
link),15 (
link)). Briefly, this included extraction of genomic DNA from saliva samples (DNA Genotek
OG-500 and OG-575 Oragene saliva kits (Ottawa, Ontario, Canada)) or peripheral blood and subsequently performing targeted NGS using our nystagmus gene capture panels or whole exome sequencing. Our nystagmus gene panels included all known nystagmus genes described in the literature (14 (
link),15 (
link)). Our initial panels were revised to also include the recently identified nystagmus gene,
AHR, mutations of which we have described to be causative of IN and FH (33 (
link)). Our aim was to identify the prevalence of
SLC38A8 mutations in our cohorts and describe the phenotypical characteristics.
Kuht H.J., Han J., Maconachie G.D., Park S.E., Lee S.T., McLean R., Sheth V., Hisaund M., Dawar B., Sylvius N., Mahmood U., Proudlock F.A., Gottlob I., Lim H.T, & Thomas M.G. (2020). SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization. Human Molecular Genetics, 29(18), 2989-3002.
