Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation

Objective To investigate the genetic cause for a family with multiorgan dysplasia and "molar tooth sign" on MRI image. Method The patient, a 3 months and 21 days old boy, was clinically examined and the medical history of his family was collected. Next generation sequencing was performed to analyze his clinical and genetic causes. Result Clinical manifestation of the child displayed multiorgan dysplasia, such as six finger deformity, short limbs, coloboma of optic disc and choroid, situs inversus.Cranial MRI showed "molar tooth sign" . The gene sequencing confirmed that the child carried a de novo deletion of c. 2843_2844 delAA in OFD1 gene. Conclusion The child has typical clinical features of Joubert syndrome, such as MRI "molar syndrome" , developmental abnormalities of ocular tissue and limb, visceral inversion, and so on.The OFD1 gene had a novel deletion mutation through gene detection. Combined clinical features with gene detection, it was clear that the child was a rare case of Joubert syndrome type 10 which was the first case of Joubert syndrome caused by OFD1 gene mutation in China. Key words: Joubert syndrome; OFD1 gene; High-throughput nucleotide sequencing