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Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(2): 162-165, 2021 Feb 10.
Article
in Chinese
| MEDLINE
| ID: mdl-33565072
ABSTRACT
OBJECTIVE: To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation. METHODS: Whole exome sequencing (WES)was carried out for the patient. Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis. RESULTS: The child was found to harbor a novel de novo c.5846_5848delATA (p. N1949del) variant in exon 48 of the FBN1 gene, which was predicted to be pathogenic by Mutation Taster. The patient was ultimately diagnosed with Marfan syndrome. CONCLUSION: Above finding has enriched the spectrum of genetic variants associated with Marfan syndrome. WES has provided a powerful tool for the diagnosis of rare diseases.