A de novo mutation leading to Marfan syndrome in a case / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 162-165, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879546
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Exons
/
Sequence Deletion
/
Fibrillin-1
/
Exome Sequencing
/
Heart Defects, Congenital
/
Marfan Syndrome
/
Mutation
Type of study:
Prognostic study
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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