[Analysis of genetic variant in a case of sporadic neurofibromatosis type I with alopecia areata and vitiligo].

OBJECTIVE

To explore the genetic basis for a patient with clinically suspected neurofibromatosis type I, alopecia areata and vitiligo.

METHODS

Variant of the NF1 gene was detected by chip capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the family trio.

RESULTS

The patient was found to harbor a novel missense c.1885G>A (p.Gly629Arg) variant of the NF1 gene, for which neither parent was carrier. The variant was not recorded in the public database. Based on the guidelines for genetic variation of the American College of Medical Genetics and Genomics, the c.1885G>A missense variant was predicted to be pathogenic (PS1+PS2+PM2+PP3+PP4).

CONCLUSION

The c.1885G>A missense variant probably underlay the disease in this child. Above finding has enriched the spectrum of the NF1 gene variants.