Gene/phenotype/disorder under study
SF3B2 (OMIM *605591) / Craniofacial Microsomia (CFM) (OMIM #164210)
Abstract
Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, after cleft palate. CFM is a genetically and phenotypically heterogeneous disorder characterized by hypoplasia of facial tissue that is often asymmetric.
Affected individuals display mandibular hypoplasia, epibulbar dermoids, microtia, facial and preauricular tags, lateral oral clefts in addition to hearing loss and various extracranial malformations, in particular sketetal, ophthalmologic and cardiac anomalies.
Haploinsufficient variants in SF3B2 are the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases.
The aim of this call is to expand the knowledge on this syndrome, define the clinical variability and its possible evolution, with the aim to establish a specific management for the affected individuals, clarify a possible genotype-phenotype association and drive further studies in order to better define the pathogenic basis of the disease.
Coordinating clinicians
Dr. Maria Chiara Baroni – mariachiara.baroni@ausl.re.it
Dr. Livia Garavelli – livia.garavelli@ausl.re.it
Institution
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No