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- W2017135917 abstract "<h3>Objective:</h3> Two unrelated families were ascertained in which sisters had infantile onset of epilepsy and developmental delay. Mutations in the <i>protocadherin 19</i> (<i>PCDH19</i>) gene cause epilepsy and mental retardation limited to females (EFMR). Despite both sister pairs having a <i>PCDH19</i> mutation, neither parent in each family was a heterozygous carrier of the mutation. The possibility of parental mosaicism of <i>PCDH19</i> mutations was investigated. <h3>Methods:</h3> Genomic DNA from peripheral blood was obtained and sequenced for <i>PCDH19</i> mutations. Parentage was confirmed by markers. <h3>Results:</h3> Both sister pairs have a mutation in <i>PCDH19</i>. Sister pair 1 has a missense mutation, c.74T>C, L25P, while sequence analysis indicates both of their parents are negative for the mutation. Diagnostic restriction enzyme analysis detected low-level mosaicism of the mutation in their mother. Sister pair 2 are half-sisters who share a mother and each has the missense <i>PCDH19</i> mutation c.1019 A>G, N340S. The sequence chromatograph of their mother shows reduced signal for the same mutation. These data indicate maternal somatic and gonadal mosaicism of the <i>PCDH19</i> mutation in both sister pairs. Phenotyping is suggestive of, and <i>PCDH19</i> mutation detection is diagnostic for, the disorder EFMR in the affected girls. <h3>Conclusions:</h3> We show that gonadal mosaicism of a <i>PCDH19</i> mutation in a parent is an important molecular mechanism associated with the inheritance of EFMR. This should be considered when providing genetic counseling for couples who have one affected daughter as they may risk recurrence of affected daughters and having sons at risk of transmitting EFMR." @default.
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- W2017135917 date "2011-04-25" @default.
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- W2017135917 title "Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations" @default.
- W2017135917 doi "https://doi.org/10.1212/wnl.0b013e318217e7b6" @default.
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