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The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population
Author(s) -
Liu A.,
Xu X.,
Yang X.,
Jiang Y.,
Yang Z.,
Liu X.,
Wu Y.,
Wu X.,
Wei L.,
Zhang Y.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12846
Subject(s) - epilepsy , proband , dravet syndrome , pediatrics , medicine , asymptomatic , intellectual disability , population , asymptomatic carrier , mutation , genetics , psychiatry , biology , gene , environmental health
Mutations in PCDH19 , which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome ( DS ) without a SCN1A mutation and 29 girls with fever‐sensitive and cluster seizures. We identified 11 novel and 7 reported mutations in 21 of 104 probands (20.2%), including 6 (6/75, 8%) DS girls and 15 (15/29, 51.7%) girls with fever‐sensitive epilepsy. The mutations were inherited in 9 probands, de novo in 11, and undetermined in the remaining patient. Shared clinical features included early onset seizures (5–18 months), seizures sensitive to fever, focal seizures or generalized tonic–clonic seizures in clusters and brief seizures. Mental retardation was present in 17 probands. Three patients had autistic features. Two of the nine probands with inherited mutations had no family history of epilepsy, one inherited the mutation from her transmitting father and the other inherited from her asymptomatic mother. Our results confirmed that the clinical spectrum of PCDH19 mutations includes female DS patients, epilepsy and mental retardation limited to females, epilepsy with normal development and asymptomatic female carriers.