The first suggestion that the KLHL15gene may cause problems was a report in 2014 of a deletion of genetic material from the X chromosome, removing part of the KLHL15gene in a boy with delayed walking (2 years) and no speech at 4 years. Epilepsy started at 13 months. He had coarse facial features, short hands and small genitalia. His MRI scan was abnormal. This deletion was inherited from his mother who had mild learning difficulties.
Further suggestions that the KLHL15gene could cause learning difficulties in boys was in 2015 when 405 families were investigated. One family with mild to moderate learning difficulties in 8 people in 3 generations was found to have a spelling mistake (variant) in the KLHL15 gene. That was written Tyr394Ilefs*61. That means that there was an instruction to stop reading the gene too soon.
In 2023 we described a boy with a difference in the KLHL15 gene Arg532del. That means that one subunit of protein encoded by the gene is missing. We studied the shape of the protein made by the gene and thought that the function of the gene was likely to be affected by this genetic difference.
KLHL15