Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with kiaa2022 pathogenic variants and review of the literature.
- Melissa Lorenzo,
- Irene Stolte-Dijkstra,
- Patrick van Rheenen,
- Ronald Garth Smith,
- Tom Scheers,
- Jagdeep S Walia
Am J Med Genet A 2018 Apr 25. Epub 2018 Apr 25.
Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.
KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and postnatal growth restriction. Read More