A New Novel Mutation of AMER1 Gene with Osteopathia Striata with Cranial Sclerosis: Case and Review

To highlight the phenotype and genotype of osteopathia striata with cranial sclerosis (OSCS), and report a novel mutation in the AMER1 gene. We describe an 11-month-old girl diagnosed with OSCS caused by a novel c.705del mutation in the AMER1 gene, confirmed as a de novo mutation through whole-exome sequencing. The patient exhibited characteristic obvious longitudinal striations, facial feature, and developmental delays, and other clinical features, broadening the phenotypic spectrum of OSCS. Whole-exome sequencing identified a novel de novo pathogenic mutation, c.705del (p. Pro237Glnfs*45). The identification of a novel mutation expands the mutational spectrum of the AMER1 gene and contributes to the understanding of the genetic heterogeneity of OSCS. Genetic testing remains critical for accurate diagnosis, particularly in cases with complex phenotypes.