Abstract:

Objective To investigate the clinical features of and GJB2 gene mutations in a Chinese Han patient with keratitis-ichthyosis-deafness syndrome （KID syndrome）, in hope to offer evidence for the clinical and genetic diagnosis of KID syndrome. Methods Clinical data were collected from a patient with KID syndrome. DNA was extracted from peripheral blood of the patient and his two family members （mother and brother）. PCR was performed to amplify the exon 2 and its flanking splicing sites of GJB2 gene followed by bidirectional direct DNA sequencing. Results The patient presented with the typical triad of vascularizing keratitis, ichthyosis and congenital deafness. A G148A mutation in the exon 2 of GJB2 gene, resulting in the substitution of aspartic acid by asparagine at position 50 of the junction protein connexin 26 （Cx26）, was identified in the patient, but not in either of his family members. Conclusion The G148A mutation in GJB2 gene may be responsible for the clinical phenotype of KID syndrome in this Chinese patient.

Key words: mutation