INTRODUCTION: Craniosynostosis is one of the most common craniofacial abnormalities. It involves premature closure of one or more cranial sutures. Mutations in many genes have been and continue to be identified in patients. SETTINGS AND SAMPLE POPULATION: Whole blood samples were collected from the patient and family members. MATERIAL AND METHODS: Whole exome sequencing was performed to identify potential mutations in the patient. The results were verified by Sanger sequencing by comparing SPECC1L gene sequence of blood samples from 100 unrelated population-matched controls. RESULTS: The patient presented with craniosynostosis with fusion of the bicoronal and sagittal sutures. A novel missense mutation (c.2612C>T, p.Pro871Leu) in the SPECC1L gene was identified. Gene analysis showed a missense mutation in exon1 of SPECC1L that led to an amino acid substitution in the region between coiled-coil domain 3 and calponin homology domain. CONCLUSION: Our observations expand the molecular spectrum of gene mutations in craniosynostosis and emphasize the importance of gene testing in the diagnosis of craniosynostosis. The observations also reinforce the characteristics of SPECC1L-related cranial disorders.
INTRODUCTION: Craniosynostosis is one of the most common craniofacial abnormalities. It involves premature closure of one or more cranial sutures. Mutations in many genes have been and continue to be identified in patients. SETTINGS AND SAMPLE POPULATION: Whole blood samples were collected from the patient and family members. MATERIAL AND METHODS: Whole exome sequencing was performed to identify potential mutations in the patient. The results were verified by Sanger sequencing by comparing SPECC1L gene sequence of blood samples from 100 unrelated population-matched controls. RESULTS: The patient presented with craniosynostosis with fusion of the bicoronal and sagittal sutures. A novel missense mutation (c.2612C>T, p.Pro871Leu) in the SPECC1L gene was identified. Gene analysis showed a missense mutation in exon1 of SPECC1L that led to an amino acid substitution in the region between coiled-coil domain 3 and calponin homology domain. CONCLUSION: Our observations expand the molecular spectrum of gene mutations in craniosynostosis and emphasize the importance of gene testing in the diagnosis of craniosynostosis. The observations also reinforce the characteristics of SPECC1L-related cranial disorders.