![Sample our Bioscience journals, sign in here to start your access, Latest two full volumes FREE to you for 14 days]({"type":"image" , "src" : "/sda/5925/TOC-Subject-Sample-2021-Bioscience.jpg"})
ABSTRACT
Purpose: To investigate the disease-causing gene in a Chinese family with Leber congenital amaurosis 4 (LCA4).
Materials and methods: Four members of an LCA family underwent ophthalmological examination and systemic assessment. DNA samples were obtained from their peripheral blood. Whole exome sequencing (WES) was performed in the two patients. After data filtering, Sanger sequencing was performed to verify the mutation within this family.
Results: The two patients were diagnosed as having LCA4 and with keratoconus (KCN). The older brother also has intellectual disability, epilepsy, Tourette syndrome and an abnormal gait, while the younger one has an abnormal bulge at the end of his sternum. A novel p.Gln81* mutation in the AIPL1 gene was determined as causing LCA4 in this family. Protein structure change prediction showed AIPL1 p.Gln81* mutation coded a very short AIPL1 peptide and could not form a normal structure as an normal AIPL1 protein.
Conclusion: Although KCN has been associated with LCA4, this type of LCA is typically moderate in severity and variable between patients. The present cases also have some systemic abnormalities.
Acknowledgments
We thank the family members for participating in this study. This research project was supported by: the National Natural Science Foundation of China (81970839(L.H.), 81670895 (L.H.) 81300802 (L.H.); 81570888 (Y.S.) and 81870683 (Y.S.); the Department of Science and Technology of Sichuan Province, China (2015JQO057 (L.H.), 2017JQ0024 (L.H.), 2016HH0072 (L.H.), 2013JY0195 (L.H.), 2016FZ0091(L.W.) and 2016JQ0026 (Y.S.)); and the Top-Notch Young Talents Program of China (Y.S.).
Author contributions
L.H. designed the study. L.W. and L.X. performed the ophthalmological examination, collected the clinical data and images, and made the following visit for the patients. L.W., L.X., Y. S. and D.J. recruited the participants. H.W. and F.H. performed the sequencing. L.H. and H.W. performed the statistical analysis. L.H. and L.X. wrote the manuscript. All of authors critically revised and provided final approval for this manuscript.
Declaration of interest
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.
Supplementary material
Supplementary material for this article can be accessed on the publisher’s website.
