Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 6, Pages 1585-1589Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37617
Keywords
PCDH19; epileptic encephalopathy; developmental disorders; behavioral disorders; somatic mosaicism; dysmorphic features
Categories
Funding
- Marion Merrell Dow Foundation
- Children's Mercy-Kansas City
- Patton Trust
- W.T. Kemper Foundation
- Pat & Gil Clements Foundation
- Claire Giannini Foundation
- Black Veatch
Ask authors/readers for more resources
Variants in the X-linked gene PCDH19 are associated with early infantile epileptic encephalopathy-9. This unusual condition spares hemizygous males except for psychiatric and behavioral abnormalities, and for this reason is also known as female limited epilepsy. Some cases are due to de novo PCDH19 variants, but may also be paternally inherited. Our patient is a 6-year-old male with epileptic encephalopathy. Exome sequencing revealed apparent heterozygosity in PCDH19 for a novel nonsense variant, c.605C>A (p.Ser202*), inconsistent with expectations for a male. Testing of other tissues revealed a mixture of mutant and normal alleles. These results are consistent with somatic mosaicism for p.Ser202*. This is the second male with somatic mosaicism for PCDH19 deficiency, providing further support for cellular interference as the pathogenic mechanism for this condition, which leads to this unusual mode of inheritance in which females are more severely affected than males. (C) 2016 Wiley Periodicals, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available