Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations

ABSTRACT

Purpose: Pathogenic variants of the WWOX gene have been linked to sexual differentiation disorders, spinocerebellar ataxia, and epileptic encephalopathy (EE). We evaluated the clinical and molecular data from six newly diagnosed patients with WWOX-related EE.

Methods: Clinical and molecular findings in six patients with EE were investigated, and biallelic pathogenic variants in the WWOX gene were identified. Clinical exome sequencing and Sanger sequencing were performed.

Results: Three variations, as well as two novel mutations, in the WWOX gene were detected.

Conclusion: Pathogenic WWOX mutations are associated with early-onset EE. Here, we report the case of six children with WWOX-related EE.

KEYWORDS:

• WWOX
• WOREE syndrome
• epileptic encephalopathy
• infant

Acknowledgments

No potential conflict of interest, this research was no partially or fully sponsored by any financial assistance.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Notes on contributors

Cengiz Havali

Cengiz Havali, Physician at the Department of Pediatrics, Division of Neurology, Bursa Yuksek İhtisas Training and Research Hospital, Bursa, Turkey and is currently working as a pediatric neurologist.

Arzu Ekici

Arzu Ekici, Associate professor at the Department of Pediatrics, Division of Neurology, Bursa Yuksek İhtisas Training and Research Hospital, Bursa, Turkey and is currently working as a pediatric neurologist.

Sevil Dorum

Sevil Dorum, Physician at the Department of Pediatrics, Division of Pediatric Metabolic Disorders, Bursa Yuksek İhtisas Training and Research Hospital, Bursa, Turkey and is currently working as a physician of pediatric metabolism.

Özlem Görükmez

Özlem Görükmez, Physician at the Department of Medical Genetics, Bursa Yuksek İhtisas Training and Research Hospital, Bursa, Turkey and is currently working as a medical geneticist.

Ali Topak

Ali Topak, Physician at the Department of Medical Genetics, Bursa Yuksek İhtisas Training and Research Hospital, Bursa, Turkey and is currently working as a medical geneticist.