Selene Cipri

1Pediatric Hematology/Oncology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children’s Hospital, IRCCS, Rome, Latium, 00165, Italy 2Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, Rome, Latium, 00165, Italy 3Molecular Genetics and Functional Genomics, Bambino Gesù Children’s Hospital, IRCCS, Rome, Latium, 00165, Italy 4Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Latium, 00165, Italy 5Predictive and Preventive Medicine...

Conflicts of Interest The authors declare no conflicts of interest. Data Availability Statement The datasets generated during and/or analyzed during the current study are available in the ClinVar repository (submission ID germline variants: SCV005324798, SCV005324799, SCV005324800). References , , , , and . 2021. “Self-Limited Focal Epilepsy and Childhood Apraxia of Speech With WAC Pathogenic Variants.” European Journal of Paediatric Neurology 30: 25–28. https://doi.org/10.1016/j.ejpn.2020.12.010.

The MutY DNA Glycosylase (MUTYH) gene is a primary component of the base excision repair (BER) pathway.1 It plays a role in fixing DNA damage caused by environmental factors, particularly in G:C to T:A transversions that result from guanine oxidation.1, 2 Biallelic germline pathogenic variants in MUTYH have been associated with a type of adenomatous polyposis affecting the colon and duodenum, known as MUTYH-associated polyposis (MAP).3 This condition follows an autosomal recessive hereditary...