Novel ZBTB20 variant in a patient with Primrose syndrome

Tzschach, A. (2024). Novel ZBTB20 variant in a patient with Primrose syndrome (Version 1) [DataSet]. GestaltMatcher Database.

Primrose syndrome is a rare autosomal dominant syndrome caused by heterozygous variants in ZBTB20. Clinical characteristics include intellectual disability, macrocephaly, ocular abnormalities, hearing loss, calcification of the external ear cartilage, nonspecific brain magnetic resonance imaging (MRI) findings, cryptorchidism, contractures, distal muscle wasting, sparse body hair, cataract, disturbed glucose metabolism, anemia, and osteoporosis. The clinical manifestations are variable and age-dependent. Fewer than 60 patients with Primrose syndrome have been reported to date. Until recently, the majority of affected individuals had been adults because the phenotype becomes more recognizable over time. We report on a 3-year-old girl with developmental delay and macrocephaly. Facial dysmorphic features included ptosis, deep-set eyes and small ear lobes. Brain MRI revealed dysgenesis of the corpus callosum. Family history was unremarkable. Trio-exome analysis identified a novel heterozygous de novo missense variant in ZBTB20 [c.1805G>A, p.(Gly602Asp)]. The patient reported here corroborates previous clinical observations and expands the mutational spectrum of Primrose syndrome. This case also illustrates the usefulness of exome sequencing in diagnosing syndromes that are difficult to recognize in young patients.