Genetic diagnosis of a child with Café-au-lait macules and juvenile xanthogranuloma.
10.3760/cma.j.cn511374-20211104-00880
- Author:
Xiaoyun LU
1
;
Fengli XIAO
Author Information
1. Department of Dermatology, the First Affiliated Hospital, Institute of Dermatology, Anhui Medical University, Hefei, Anhui 230032, China. xiaofengli@126.com.
- Publication Type:Journal Article
- MeSH:
Child;
Female;
Humans;
Cafe-au-Lait Spots/genetics*;
Genes, Neurofibromatosis 1;
Neurofibromatosis 1/genetics*;
Xanthogranuloma, Juvenile/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(11):1266-1269
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with café-au-lait macules and juvenile xanthogranuloma.
METHODS:Clinical data and peripheral blood samples of the patient and her family members were collected and subjected to targeted capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing.
RESULTS:A deletional variant in exon 23 of the NF1 gene was detected in the proband. Sanger sequencing has verified it as a de novo variant, which was highly correlated with the clinical manifestations of the patient and her mother. The diagnosis of neurofibromatosis 1 (NF1) was established. The variant was unreported previously.
CONCLUSION:Targeted capture and next-generation sequencing combined with Sanger sequencing can facilitate early diagnosis of NF1 and provide a basis for the clinical treatment, genetic counseling and prenatal diagnosis.
