X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
- Dibbens, L.
- Tarpey, P.
- Hynes, K.
- Bayly, M.
- Scheffer, I.
- Smith, R.
- Bomar, J.
- Sutton, E.
- Vandeleur, L.
- Shoubridge, C.
- Edkins, S.
- Turner, S.
- Stevens, C.
- O'Meara, S.
- Tofts, C.
- Barthorpe, S.
- Buck, G.
- Cole, J.
- Halliday, K.
- Jones, D.
- et al.
DOIAbstract
Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inheritance and an unusual expression pattern. Disorders arising from mutations on the X chromosome are typically characterized by affected males and unaffected carrier females. In contrast, EFMR spares transmitting males and affects only carrier females. Aided by systematic resequencing of 737 X chromosome genes, we identified different protocadherin 19 (PCDH19) gene mutations in seven families with EFMR. Five mutations resulted in the introduction of a premature termination codon. Study of two of these demonstrated nonsense-mediated decay of PCDH19 mRNA. The two missense mutations were predicted to affect adhesiveness of PCDH19 through impaire...
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