A Novel Candidate Gene For Neurodevelopmental Disorders: JKAMP

Bakground/objectives: The widespread use of whole exome sequencing (WES) in children with developmental delay (DD) or intellectual disability (ID) allows to elucidate genetic etiology of neurodevelopmental disorders (NDDs). Herein, we presented a case with a homozygous variant in the JKAMP gene and aimed to show JKAMP could be a novel candidate gene for NDDs. Case Report: A 4-year-old boy presented with ID, epilepsy and autistic features. He was the fourth child of consanguineous parents, one of his brothers had died due to prematurity and the other two brothers were healthy. Developmental delay had been noticed when he was 6 months old, he had diagnosed with epilepsy at the age of 1 year and had never gained the ability to speak and communicate. He had a narrow forehead, synophrysis, long eyelashes, depressed nasal bridge, short nose, broad nasal tip, long philtrum, and thin upper lip in dysmorphologic evaluation. In the WES, a homozygous frameshift variant (c.243dup, p.Lys82GlufsTer16) classified as “likely pathogenic” was detected in the JKAMP gene (ENST00000556985). His parents and both healthy brothers were heterozygous for the variant. Discussion: The variant detected in our patient has been previously reported in a 9-year-old case with ID, epilepsy and autism by Strauss et al. The expression of JKAMP was shown in wide range of mouse tissues including brain but the gene does not have a confirmed disease association. Conclusion: Based on these two cases, JKAMP should be considered as a candidate gene for a new NDD and supported by functional analyses.
Keywords: JKAMP, intellectual disability, autism