A Rare Co-occurrence of Williams Syndrome and 𝘛𝘕𝘒2 Gene-Related Epilepsy.

Williams syndrome is a multisystem disorder characterized by developmental delay, characteristic facial features, growth abnormalities, and cardiovascular abnormalities. The disorder is an autosomal dominant genetic syndrome that occurs due to microdeletion at chromosomal locus 7q11.23. Seizures occur uncommonly in association with Williams syndrome. Mutations in the  TNK2  gene have been found in rare cases of autosomal recessive infantile-onset epilepsy. We describe a rare co-occurrence of Williams syndrome and  TNK2  gene-related epilepsy in a child born of consanguineous parents. This case report emphasizes the role of genetic testing in the diagnosis of rare diseases. This is the fourth case report of epilepsy with biallelic mutations in the  TNK2  gene, to the best of the authors' knowledge.
Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Aster CMI Hospital Institutional Ethics Committee issued approval IEC Letter no Aster/IEC/Other/001/2023-24. This case report was considered and approved under “exempt” category by institutional ethics committee. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.
(Copyright © 2024, Angel et al.)