Analysis of genetic variant in a case of sporadic neurofibromatosis type I with alopecia areata and vitiligo / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 1120-1122, 2021.
Article
en Zh
| WPRIM
| ID: wpr-922010
Biblioteca responsable:
WPRO
ABSTRACT
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.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Vitíligo
/
Neurofibromatosis 1
/
Genómica
/
Alopecia Areata
/
Mutación
Tipo de estudio:
Guideline
/
Prognostic_studies
Límite:
Child
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Año:
2021
Tipo del documento:
Article