FAQ

The MAPK8IP3 gene encodes the JIP3 protein, which acts as a scaffold protein in the JNK signaling pathway. It is essential for the proper transport of cellular components within neurons, facilitating axonal transport by linking cargo to motor proteins like kinesin and dynein.
Ito M, Yoshioka K, Akechi M, Yamashita S, Takamatsu N, Sugiyama K, Hibi M, Nakabeppu Y, Shiba T, Yamamoto KI (November 1999). “JSAP1, a novel jun N-terminal protein kinase (JNK)-binding protein that functions as a Scaffold factor in the JNK signaling pathway”. Mol Cell Biol. 19 (11): 7539–48. doi:10.1128/mcb.19.11.7539. PMC 84763. PMID 10523642

Pathogenic variants in the MAPK8IP3 gene are associated with neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, motor development issues  and variable brain abnormalities. This condition is known as Neurodevelopmental Disorder with or without Variable Brain Abnormalities (NEDBA).
National Organization for Rare Disorders

Most reported cases of MAPK8IP3-related disorders result from de novo mutations, meaning they occur spontaneously and are not inherited from parents. However, rare instances of gonadal mosaicism have been observed, where a parent carries the mutation in some of their reproductive cells.
National Organization for Rare Disorders

The exact prevalence is unknown due to the rarity and recent identification of the condition. As of now, there are 18 reported cases in the medical literature.
National Organization for Rare Disorders

JIP3 is vital for neuronal development, including axon guidance and the formation of brain structures such as the thalamus, hippocampus, and cortical plate. Disruptions in MAPK8IP3 can lead to neurodevelopmental disorders characterized by developmental delays and intellectual disabilities.
National Organization for Rare Disorders

Yes, studies in model organisms like zebrafish, C. elegans and mice have been conducted to understand the role of MAPK8IP3 in neuronal development and function. 

Both missense and truncating variants in the MAPK8IP3 gene have been reported. Specific symptoms have not yet been associated with particular gene variants.
National Organization for Rare Disorders

The regulation of MAPK8IP3 expression involves various transcriptional and post-transcriptional mechanisms, including alternative splicing, which results in multiple transcript variants.

The MAPK8IP3 gene is located on chromosome 16 at position 16p13.3.
UDN, GeneCards

Diagnosis typically involves genetic testing to identify pathogenic variants in the MAPK8IP3 gene, along with clinical evaluations to assess developmental delays and neurological symptoms.
National Organization for Rare Disorders

Treatment is primarily supportive and symptom-driven, focusing on therapies to address speech, physical, and social development. Occupational, physical, speech, and feeding therapies may be utilized to address specific developmental delays.
National Organization for Rare Disorders

Yes, individuals may experience vision issues such as myopia (nearsightedness), strabismus (crossed eyes), hyperopia (farsightedness), amblyopia (lazy eye), nystagmus, and optic nerve atrophy.
Wolverine Foundation

Yes, genetic counseling is recommended for affected individuals and their families to understand the condition, its inheritance patterns, and implications for family planning.
National Organization for Rare Disorders

Yes, organizations like The Wolverine Foundation and CureMAPK8IP3 provide resources and support for families affected by MAPK8IP3-related neurodevelopmental disorder.
National Organization for Rare Disorders

Ongoing research includes studies on the natural history, cellular mechanisms, and potential treatments for the disorder. Families interested in participating in research can visit organizations like CureMAPK8IP3 and  The Wolverine Foundation for more information.

For more detailed information, you can refer to resources like GeneCards and the National Institute of Health