Add like
Add dislike
Add to saved papers

Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family.

Because the differentiation between phenotypic expansion and blended phenotypes is not clear, the mixed phenotypes of blended rare genetic diseases make diagnosis difficult. We describe a family with the co-existence and co-segregation of generalized epilepsy with febrile seizures plus (GEFS+) and Kabuki syndrome (KS). The proband, a 7-year-old male, presented with GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability. Two novel missense mutations: p.G325A in the KDM6A gene responsible for KS and p.G1877V in the SCN1A gene responsible for GEFS+ were identified using the TruSight One sequencing panel. This family is the first in the literature to be confirmed molecularly with the blended phenotype of GEFS+ and KS. Furthermore, two affected female patients with X-linked KS showed a partial escape X-inactivation pattern of KDM6A with milder phenotypes than the male affected proband in this study.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app