Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.

ABSTRACT: Craniosynostosis are a heterogeneous group of genetic conditions characterized by the premature fusion of the skull bones. The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer syndromes. They differ from each other in various additional clinical manifestations, e.g., syndactyly is typical of Apert and rare in Pfeiffer syndrome. Their inheritance is autosomal dominant with incomplete penetrance and one of the main genes responsible for these syndromes is FGFR2, mapped on chromosome 10, encoding fibroblast growth factor receptor 2. We report an FGFR2 gene variant in a mother and daughter who present with different clinical features of Crouzon syndrome. The daughter is more severely affected than her mother, as also verified by a careful study of the face and oral cavity.

SUBMITTER: Lo Vecchio F 

PROVIDER: S-EPMC9319849 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature