PMP22-RAI1 contiguous gene duplication syndrome

PMP22-RAI1 contiguous gene duplication syndrome is a very rare genetic condition caused by a small extra copy (duplication) of a region on chromosome 17. This region contains two important genes: PMP22 and RAI1. Because both genes are duplicated at the same time, this condition combines features of two better-known disorders — Charcot-Marie-Tooth disease type 1A (caused by extra copies of PMP22) and Smith-Magenis syndrome (caused by changes in RAI1). The result is a condition that affects the nervous system, development, and behavior in overlapping ways. People with this syndrome typically experience problems with the nerves that control movement and sensation in the arms and legs (a peripheral neuropathy), along with intellectual disability, delayed speech and language, behavioral challenges, and distinctive physical features. Sleep disturbances are also commonly reported, which is a hallmark feature linked to the RAI1 gene. Some individuals may have heart defects, hearing loss, or vision problems. There is currently no cure for this syndrome. Care focuses on managing symptoms through physical therapy, speech therapy, occupational therapy, behavioral support, and treatment of specific medical problems as they arise. Because this condition is so rare, most of what is known comes from a small number of reported cases, and research is still in early stages.

Bring these to your next appointment

• Q1.What specific duplication was found on my child's chromosome 17, and how large is it?,Which features of Charcot-Marie-Tooth disease and Smith-Magenis syndrome should we watch for most closely?,What therapies should we start right away, and how often should they happen?,Does my child need a heart evaluation, hearing test, or eye exam?,How will the nerve damage (neuropathy) progress over time, and what signs should prompt us to come back sooner?,Are there any patient registries or research studies we could join to help advance understanding of this condition?,What local or national support resources are available for families dealing with Smith-Magenis syndrome or Charcot-Marie-Tooth disease that might also help us?

Common questions about PMP22-RAI1 contiguous gene duplication syndrome

Related conditions

Other rare diseases commonly researched alongside PMP22-RAI1 contiguous gene duplication syndrome.

• Smith-Magenis syndrome→