Affiliations: Department of Clinical and Metabolic Genetics, The
Hospital for Sick Children, University of Toronto, Toronto, Ontario,
Canada | Department of Pediatric Neuroradiology, The Hospital
for Sick Children and University of Toronto, Toronto, Ontario, Canada | Department of Neurology, The Hospital for Sick
Children, University of Toronto, Toronto, Ontario, Canada
Note: [] Correspondence: Dr. Grace Yoon, Divisions of Neurology and
Clinical and Metabolic Genetics, The Hospital for Sick Children, University of
Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. Tel.: +1 416
813 6389; Fax: +1 416 813 5345; E-mail: grace.yoon@utoronto.ca
Abstract: Oral-facial-digital syndrome type 1 (OFD1; OMIM#311200) is a rare
developmental disorder characterized by craniofacial, oral, skeletal
abnormalities, cystic kidneys and neurological involvement including mental
retardation. The syndrome is caused by mutations in the OFD1 gene and results
in male lethality in the first or second trimester. The spectrum of phenotypes
associated with mutations in OFD1 continues to expand, and genotype-phenotype
correlations are beginning to be recognized. The spectrum includes
Simpson-Golabi-Behmel syndrome type 2 (OMIM#300209) and X-linked Joubert
syndrome (type 10) phenotype in addition to the classical OFD1 phenotype with
early male lethality. We describe the neuroimaging and clinical findings in a
17-year-old male with a clinical diagnosis of Joubert syndrome associated with
a novel mutation in the OFD1 gene (type 10). Our patient confirms the reported
association of OFD1 mutation with X-linked recessive Joubert syndrome. This
family is the fifth reported with X-linked Joubert syndrome, associated with a
novel mutation in exon 17 of the OFD1 gene. We describe unique neuroimaging and
clinical features associated with OFD1 mutations and highlight the utility of
advanced neuroimaging techniques in characterizing the phenotype.
