Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A.

ABSTRACT: Kabuki syndrome (KS) is a rare genetic disorder characterized by the following 5 crucial symptoms: dysmorphic facial features, growth retardation, skeletal abnormalities, intellectual disability, and dermatoglyphic malformations. Studies show that most of the KS cases are caused by mutations or large deletions in the KMT2D gene, while the other cases show mutations in KDM6A. We studied 2 patients with suspected KS in 2 unrelated families by whole-exome sequencing to identify the possible genetic cause(s) and by Sanger sequencing to validate the identified variants and check the segregation in other members of the families. Finally, the potential effects of the variants on the structure and function of respective proteins were tested using in silico predictions. Both affected

SUBMITTER: Khodaeian M 

PROVIDER: S-EPMC8114050 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature