Protocadherin 19 Explained

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

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

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]

Notes and References

1. Dell'Isola GB, Vinti V, Fattorusso A, Tascini G, Mencaroni E, Di Cara G, Striano P, Verrotti A . The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation . Frontiers in Neurology . 12 . 780053 . 2021 . 35111125 . 8801579 . 10.3389/fneur.2021.780053 . free .
2. Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O . 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 . February 2000 . 10718198 . 10.1093/dnares/7.1.65 . free .
3. Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J . 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 . February 2019 . 29892053 . 6344372 . 10.1038/s41380-018-0066-9 .