Protocadherin 19
Protocadherin 19 is a protein belonging to the protocadherin family, which is part of the large cadherin superfamily of cell-adhesion proteins. The PCDH19 gene encoding the protein is located on the long arm of the X chromosome.
Clinical significance
[edit]Mutations of the PCDH19 gene cause epilepsy-intellectual disability in females. According to a review published in 2021, PCDH19 was one of the six genes most often affected in genetic epilepsies.[1]
History
[edit]The PCDH19 gene that encodes the protein was first cloned in 2000 by Nagase et al.[2] In 2008, PCDH19 was identified as the gene responsible for the development of epilepsy-intellectual disability in females, and in the years that have passed since, rare cases were found of males affected by this disease.[3]
References
[edit]- ^ Dell'Isola GB, Vinti V, Fattorusso A, Tascini G, Mencaroni E, Di Cara G, Striano P, Verrotti A (2021). "The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation". Frontiers in Neurology. 12: 780053. doi:10.3389/fneur.2021.780053. PMC 8801579. PMID 35111125.
- ^ Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
- ^ Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J (February 2019). "A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity". Molecular Psychiatry. 24 (2): 241–251. doi:10.1038/s41380-018-0066-9. PMC 6344372. PMID 29892053.
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