A novel frameshift mutation in the NHS gene causes Nance-Horan syndrome in a Chinese family.

Abstract Background:Nance-Horan syndrome (NHS), also known as cataract-tooth syndrome, is a rare X-linked genetic disorder characterized by congenital cataract as well as dental and craniofacial abnormalities caused by mutations in the NHS gene.In this study,we describe a Chinese family with a frameshift mutation in NHS associated Nance-Horan syndrome, thus expanding the mutational spectrum of this gene.Methods:Four members (including three patients) had their ocular bodies examined in the presence of congenital cataracts featuring dental and craniofacial abnormalities. DNA samples of family members were extracted from peripheral venous blood, and known pathogenic genes of congenital cataracts were panel sequenced.Results:In the proband, a novel frameshift mutation (c.1694_1697delGAATinsCATTCG) was identified in the NHS gene. Sanger sequencing of family members verified that the mutation completely co-segregated with the disease in the pedigree.Conclusion:The congenital cataract family was diagnosed as having Nance-Horan syndrome (NHS), and the NHS frameshift mutation was determined to cause the disease in this family. This is a novel NHS gene mutation that has not been reported previously.