Autosomal recessive monilethrix: a case report and mutation analysis

Abstract

Objective To report the first case of autosomal recessive monilethrix in China, and to study the mutations in the desmoglein 4（DSG4）gene in the patient and his parents. Methods Peripheral blood samples were obtained from an 11-year-old boy with monilethrix, his parents and 100 healthy human controls of Han nationality. Genomic DNA was extracted from these samples, and PCR was performed to amplify 16 exons of the DSG4 gene followed by DNA sequencing. Results There were 2 heterozygous mutations in the DSG4 gene in the patient, including a translocation mutation c.837delA（p.E280Rfs*4）in exon 8 and a nonsense mutation c.2389C > T（p.R797*）in exon 16. Gene analysis in the parents revealed that the translocation mutation and nonsense mutation were inherited from the father and mother respectively. Neither of the two mutations was found in the 100 healthy controls. Conclusions The two heterozygous mutations c.837delA（p.E280Rfs*4）and c.2389C > T（p.R797*）in the DSG4 gene, both of which lead to premature termination of translation of the DSG4 gene, may be responsible for the clinical phenotype of autosomal recessive monilethrix in this family. Key words: Monilethrix; Hypotrichosis; Skin diseases, genetic; Desmogleins; Mutation; Desmoglein 4 gene