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Updated: Nov 18, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
[A de novo mutation leading to Marfan syndrome in a case]
Shuimei Liang1, Lili Liu, Xiangdong Qiu
1Jinan Yinfeng Medical Laboratory, Jinan, Shandong 250014, China. liujinxiu1987@163. com.
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.
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