Mutations in ZBTB20 cause Primrose syndrome in a Pediatric Patient: A Case Report

Abstract

Background: Macrocephaly, hypotonia, developmental delay, intellectual disability with delayed expressive speech, behavioral issues, a distinct facial phenotype, radiographic abnormalities, and impaired glucose metabolism are characteristics of the Primrose syndrome. As a result, Primrose syndrome is identified in a proband with typical symptoms and a heterozygous pathogenic mutation in ZBTB20 identified by molecular genetic testing. Case presentation: A seven-year-old girl presented with a history of not speaking consistently, snoring and mouth breathing. The patient was responding to sound and there was presence of adenoid hypertrophy. Four years later, the patient presented with developmental delay, delayed speech and problem sleeping. Whole exome sequencing (WES) was done and the result showed a likely heterozygous pathogenic variant, c.11+1del, in the ZBTB20 gene. As advised, management includes educational programs, physiotherapy, speech therapy, and occupational therapy. Conclusion: Patients must have their growth and development followed every six months, their speech and developmental needs evaluated every six months, their behavioural issues, neurological, and musculoskeletal conditions evaluated at every visit, their brain stem evoked response audiometry evaluated annually, and their thyroid function and insulin-resistant diabetes tested annually. Keywords: Heterozygous, Mutation, ZBTB20, Primrose, syndrome, Jeddah