Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females.

ABSTRACT:

Rationale

Epilepsy with mental retardation limited to females (EFMR) is a rare type of X-linked epilepsy disorder, affecting heterozygous females disproportionately. The pathogenesis of EFMR has been identified as mutations in the protocadherin 19 (PCDH19) gene. To data, more than 60 different mutations in PCDH19 have been identified. Most of them are located at exon 1, but we describe a novel deletion mutation c.2468delT at exon 3 of PCDH19.

Patient concerns

The patient was an 11-year-old girl with onset of seizures at the age of 18 months and followed by progressive intellectual disability (ID) later.

Diagnosis

The girl was diagnosed as EFMR when a novel deletion mutation c.2468delT at exon 3 of PCDH19 was found. The deletion mutation c.2468delT was predicted to hav

SUBMITTER: Zhang X 

PROVIDER: S-EPMC6320026 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature